Glioma

Cancer MONDO:0021042 Pathograph 6 Show in embeddings browser neuroepithelial neoplasm

Glioma is the umbrella class of primary central nervous system tumors that arise from glial cells or glial/neural precursor cells — encompassing astrocytic, oligodendroglial, ependymal, and mixed neuronal-glial lineages and spanning WHO CNS grades 1-4. Under the 5th-edition WHO Classification of Tumors of the Central Nervous System (WHO CNS5, 2021), gliomas are organized primarily by molecular type rather than histology alone, using a layered "integrated diagnosis." Adult-type diffuse gliomas collapse into three molecularly defined types (astrocytoma, IDH-mutant; oligodendroglioma, IDH-mutant and 1p/19q-codeleted; and glioblastoma, IDH-wildtype), while pediatric-type diffuse gliomas, circumscribed astrocytic gliomas, and ependymal tumors form separate families. Shared molecular axes — IDH1/2 mutation, 1p/19q codeletion, TERT promoter mutation, EGFR amplification, combined chromosome 7 gain / chromosome 10 loss (+7/-10), CDKN2A/B homozygous deletion, and H3 alterations — define entities and increasingly drive grading. This root entry captures the conserved glial-tumor mechanism and cross-references the molecularly/histologically defined children curated as standalone dismech entries.

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6
Pathophys.
7
Phenotypes
6
Pathograph
8
Genes
7
Medical Actions
6
Subtypes
9
Datasets
1
Trials
6
References
1
Deep Research

Subtypes

6
Glioblastoma, IDH-Wildtype
Most aggressive adult-type diffuse glioma (WHO grade 4), IDH-wildtype, diagnosable by classic histology or by glioblastoma-defining molecular features (TERT promoter mutation, EGFR amplification, and/or +7/-10). Curated as a standalone dismech entry (Glioblastoma_IDH_Wildtype; MONDO:0850335).
Show evidence (1 reference)
PMID:35869291 SUPPORT Human Clinical
"The principal updates in adult tumours concern the molecular definition of glioblastoma, restructuring of diffuse gliomas, and the introduction of several new tumour types."
WHO CNS5 gives glioblastoma a molecular (IDH-wildtype) definition, the basis for this subtype.
IDH-Mutant Astrocytoma
Adult-type diffuse glioma (WHO grade 2-4) defined by IDH1/2 mutation without 1p/19q codeletion, commonly with ATRX loss and TP53 mutation; prognosis is significantly better than IDH-wildtype glioblastoma. CDKN2A/B homozygous deletion upgrades the tumor to grade 4. Curated as a standalone dismech entry (IDH_Mutant_Astrocytoma; MONDO:0956994).
Show evidence (1 reference)
PMID:36717507 SUPPORT Human Clinical
"For the first time molecular features are not only relevant for the classification of IDH-mutant gliomas but may impact grading as well."
IDH mutation (without 1p/19q codeletion) with astrocytic-lineage markers defines IDH-mutant astrocytoma under WHO CNS5, where molecular features also drive grading.
IDH-Mutant and 1p/19q-Codeleted Oligodendroglioma
Adult-type diffuse glioma (WHO grade 2-3) defined by the combination of IDH1/2 mutation and whole-arm 1p/19q codeletion; generally the most favorable-prognosis adult diffuse glioma. Curated as a standalone dismech entry (IDH_Mutant_Oligodendroglioma; MONDO:0859592).
Show evidence (1 reference)
PMID:36717507 SUPPORT Human Clinical
"For the first time molecular features are not only relevant for the classification of IDH-mutant gliomas but may impact grading as well."
IDH mutation status (with 1p/19q codeletion for oligodendroglioma) defines and grades this subtype under WHO CNS5.
Diffuse Midline Glioma, H3 K27-Altered
Pediatric-type diffuse high-grade glioma (WHO grade 4) of midline structures, defined by loss of H3 K27 trimethylation (H3 K27M mutation or EZHIP overexpression). Curated as a standalone dismech entry (H3_K27_Altered_Diffuse_Midline_Glioma; MONDO:1060171).
Show evidence (1 reference)
PMID:35869291 SUPPORT Human Clinical
"establishing separate tumour families for paediatric-type gliomas"
WHO CNS5 established separate paediatric-type glioma families, the framework under which diffuse midline glioma, H3 K27-altered is defined.
Mixed Neuronal-Glial Tumor
Tumors with combined neuronal and glial differentiation (e.g., ganglioglioma, dysembryoplastic neuroepithelial tumor), typically low-grade and frequently epilepsy-associated. Curated as a standalone dismech entry (Mixed_Neuronal-Glial_Tumor; MONDO:0016729).
Show evidence (1 reference)
PMID:35869291 SUPPORT Human Clinical
"revision of diagnostic criteria for some of the existing neoplasms"
WHO CNS5 revised diagnostic criteria across CNS tumour families, including the neuronal and mixed neuronal-glial tumours grouped here.
Pilocytic Astrocytoma
Circumscribed astrocytic glioma (WHO grade 1), the most common paediatric glioma, typically driven by KIAA1549-BRAF fusion or BRAF V600E and a distinct WHO CNS5 family from the adult-type diffuse gliomas. Curated as a standalone dismech entry (Pilocytic_Astrocytoma; MONDO:0016691).
Show evidence (1 reference)
PMID:35869291 SUPPORT Human Clinical
"WHO CNS5 places greater emphasis on organising tumours by molecular type to reflect biology"
WHO CNS5 organises tumours by molecular type; pilocytic astrocytoma is defined by its characteristic BRAF alteration within the circumscribed astrocytic glioma family.

Pathophysiology

6
Glial-Lineage Neoplastic Transformation
Gliomas arise from neoplastic transformation of glial cells or glial/neural stem and progenitor cells, producing highly infiltrative (diffuse) or circumscribed CNS tumors. Cell-of-origin lineage (astrocytic, oligodendroglial, ependymal, or mixed neuronal-glial) together with molecular alterations underpins the WHO CNS5 integrated diagnosis.
glial cell CL:0000125 Cell Ontology (CL) Relation: this pathophysiological event involves this cell type This pathophysiological event involves glial cell (CL:0000125). CL:0000125 is a cell type from the Cell Ontology. neural stem cell CL:0000047 Cell Ontology (CL) Relation: this pathophysiological event involves this cell type This pathophysiological event involves neural stem cell (CL:0000047). CL:0000047 is a cell type from the Cell Ontology.
gliogenesis GO:0042063 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves abnormal gliogenesis (GO:0042063). GO:0042063 is a biological process from the Gene Ontology. ⚠ ABNORMAL cell population proliferation GO:0008283 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves increased cell population proliferation (GO:0008283). GO:0008283 is a biological process from the Gene Ontology. ↑ INCREASED
Show evidence (1 reference)
PMID:36534419 SUPPORT Human Clinical
"Adult-type diffuse gliomas represent a group of highly infiltrative central"
Adult-type diffuse gliomas are highly infiltrative CNS tumors of glial lineage.
IDH-Mutation Oncometabolite Epigenetic Reprogramming
IDH1 or IDH2 mutation is the primary biological divider of adult-type diffuse glioma. Mutant IDH acquires neomorphic activity producing the oncometabolite D-2-hydroxyglutarate, which competitively inhibits alpha-ketoglutarate-dependent dioxygenases (TET DNA demethylases and histone demethylases), yielding a glioma CpG-island methylator phenotype and a block in glial differentiation. IDH-mutant tumors carry a more favorable prognosis than IDH-wildtype.
astrocyte CL:0000127 Cell Ontology (CL) Relation: this pathophysiological event involves this cell type This pathophysiological event involves astrocyte (CL:0000127). CL:0000127 is a cell type from the Cell Ontology.
chromatin organization GO:0006325 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves abnormal chromatin organization (GO:0006325). GO:0006325 is a biological process from the Gene Ontology. ⚠ ABNORMAL demethylation GO:0070988 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves decreased demethylation (GO:0070988). GO:0070988 is a biological process from the Gene Ontology. ↓ DECREASED glial cell differentiation GO:0010001 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves decreased glial cell differentiation (GO:0010001). GO:0010001 is a biological process from the Gene Ontology. ↓ DECREASED
Show evidence (3 references)
PMID:36717507 SUPPORT Human Clinical
"For the first time molecular features are not only relevant for the classification of IDH-mutant gliomas but may impact grading as well."
IDH mutation is the defining molecular feature separating IDH-mutant from IDH-wildtype gliomas and informs grading.
PMID:38760442 SUPPORT Human Clinical
"D-2-HG promotes DNA and histone hypermethylation."
The IDH-mutant oncometabolite D-2-hydroxyglutarate drives DNA and histone hypermethylation, the epigenetic reprogramming underlying the glioma CpG-island methylator phenotype.
PMID:36534419 SUPPORT Human Clinical
"Diagnosis of adult type diffuse gliomas, IDH"
WHO CNS5 anchors adult-type diffuse glioma diagnosis on IDH mutation status.
TERT Promoter Mutation and Telomere Maintenance Reactivation
TERT promoter mutation reactivates telomerase, enabling telomere maintenance and replicative immortality. TERT promoter mutation is one of the three glioblastoma-defining molecular markers (with EGFR amplification and +7/-10) and also occurs frequently in oligodendroglioma.
telomere maintenance GO:0000723 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves increased telomere maintenance (GO:0000723). GO:0000723 is a biological process from the Gene Ontology. ↑ INCREASED cell population proliferation GO:0008283 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves increased cell population proliferation (GO:0008283). GO:0008283 is a biological process from the Gene Ontology. ↑ INCREASED
Show evidence (1 reference)
PMID:38760442 SUPPORT Human Clinical
"bind the mutated TERT promoter and upregulate TERT expression"
RNA polymerase II binding the mutated TERT promoter upregulates TERT expression, reactivating telomerase and enabling telomere maintenance in glioma.
EGFR Amplification and RTK-RAS-PI3K Mitogenic Signaling
EGFR amplification (often with the EGFRvIII variant) and related receptor tyrosine kinase lesions drive constitutive RAS-MAPK and PI3K-AKT-mTOR mitogenic signaling and growth-factor-independent proliferation. EGFR amplification is one of the three glioblastoma-defining molecular features.
epidermal growth factor receptor signaling pathway GO:0007173 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves increased epidermal growth factor receptor signaling pathway (GO:0007173). GO:0007173 is a biological process from the Gene Ontology. ↑ INCREASED cell population proliferation GO:0008283 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves increased cell population proliferation (GO:0008283). GO:0008283 is a biological process from the Gene Ontology. ↑ INCREASED
Show evidence (1 reference)
PMID:37540408 SUPPORT Human Clinical
"EGFR amplification, and TERT promoter mutation are diagnostic"
EGFR amplification is one of the glioblastoma-defining molecular alterations under WHO CNS5 (diagnostic of grade 4 IDH-wildtype glioblastoma). The RTK-RAS-PI3K signaling mechanism this node also describes still needs a dedicated source.
Chromosomal Copy-Number Alteration and Genomic Instability
Glioma types are defined in part by large-scale chromosomal copy-number alterations: combined whole chromosome 7 gain and chromosome 10 loss (+7/-10) and CDKN2A/B homozygous deletion in IDH-wildtype glioblastoma; whole-arm 1p/19q codeletion in oligodendroglioma; and CDKN2A/B loss upgrading IDH-mutant astrocytoma to grade 4. These reflect underlying chromosomal instability.
chromosome organization GO:0051276 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves abnormal chromosome organization (GO:0051276). GO:0051276 is a biological process from the Gene Ontology. ⚠ ABNORMAL
Show evidence (1 reference)
PMID:36717507 SUPPORT Human Clinical
"whole-arm 1p/19q codeletion and TERT promoter"
Whole-arm 1p/19q codeletion is a defining large-scale chromosomal copy-number alteration under WHO CNS5, exemplifying the copy-number changes this node describes.
Diffuse Infiltrative Growth
Diffuse gliomas grow by single-cell infiltration of brain parenchyma along white-matter tracts and perivascular/subpial routes, precluding complete surgical resection and driving recurrence despite therapy.
glial cell CL:0000125 Cell Ontology (CL) Relation: this pathophysiological event involves this cell type This pathophysiological event involves glial cell (CL:0000125). CL:0000125 is a cell type from the Cell Ontology.
cell migration GO:0016477 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves increased cell migration (GO:0016477). GO:0016477 is a biological process from the Gene Ontology. ↑ INCREASED
Show evidence (1 reference)
PMID:36534419 SUPPORT Human Clinical
"Adult-type diffuse gliomas represent a group of highly infiltrative central"
Diffuse gliomas are characterized by highly infiltrative growth in the CNS.

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.
Pathograph: causal mechanism network for Glioma Interactive directed graph showing how pathophysiology mechanisms, phenotypes, genetic factors and variants, experimental models, environmental triggers, and treatments relate through causal and linked edges.

Phenotypes

7
Digestive 1
Dysphagia HP:0002015 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Dysphagia (HP:0002015). HP:0002015 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:37540408 SUPPORT Human Clinical
"dysphagia, headache, confusion"
Dysphagia is listed among the prevalent symptoms of high-grade glioma.
Musculoskeletal 1
Focal Motor Deficit Muscle weakness HP:0001324 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Motor deficits, annotated with Muscle weakness (HP:0001324). HP:0001324 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:37540408 SUPPORT Human Clinical
"aphasia, motor deficits, fatigue"
Focal motor deficits are listed among the prevalent symptoms of high-grade glioma.
Nervous System 4
Seizure FREQUENT HP:0001250 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Seizure (HP:0001250). HP:0001250 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:37540408 SUPPORT Human Clinical
"The most prevalent symptoms include seizures"
Seizures are among the most prevalent presenting symptoms of glioma.
Headache HP:0002315 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Headache (HP:0002315). HP:0002315 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:37540408 SUPPORT Human Clinical
"dysphagia, headache, confusion"
Headache is listed among the prevalent symptoms of high-grade glioma.
Cognitive Impairment HP:0100543 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Cognitive impairment (HP:0100543). HP:0100543 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:37540408 SUPPORT Human Clinical
"The presence of neurological deficits and seizures can significantly impact quality of life."
Cognitive/neurological deficits are frequent, quality-of-life-limiting features of glioma.
Aphasia HP:0002381 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Aphasia (HP:0002381). HP:0002381 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:37540408 SUPPORT Human Clinical
"aphasia, motor deficits, fatigue"
Aphasia is listed among the prevalent symptoms of high-grade glioma.
Constitutional 1
Fatigue HP:0012378 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Fatigue (HP:0012378). HP:0012378 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:37540408 SUPPORT Human Clinical
"aphasia, motor deficits, fatigue"
Fatigue is listed among the prevalent symptoms of high-grade glioma.
🧬

Genetic Associations

8
IDH1 (Somatic Missense Mutation)
Gene: IDH1 hgnc:5382 HUGO Gene Nomenclature Committee (hgnc) Relation: this disease-associated gene is this gene This disease-associated gene is IDH1 (hgnc:5382). hgnc:5382 is a gene from the HUGO Gene Nomenclature Committee.
Show evidence (1 reference)
PMID:36717507 SUPPORT Human Clinical
"For the first time molecular features are not only relevant for the classification of IDH-mutant gliomas but may impact grading as well."
IDH mutation is the defining, grading-relevant molecular feature of IDH-mutant glioma.
IDH2 (Somatic Missense Mutation)
Gene: IDH2 hgnc:5383 HUGO Gene Nomenclature Committee (hgnc) Relation: this disease-associated gene is this gene This disease-associated gene is IDH2 (hgnc:5383). hgnc:5383 is a gene from the HUGO Gene Nomenclature Committee.
TERT (Promoter Mutation)
Gene: TERT hgnc:11730 HUGO Gene Nomenclature Committee (hgnc) Relation: this disease-associated gene is this gene This disease-associated gene is TERT (hgnc:11730). hgnc:11730 is a gene from the HUGO Gene Nomenclature Committee.
EGFR (Amplification)
Gene: EGFR hgnc:3236 HUGO Gene Nomenclature Committee (hgnc) Relation: this disease-associated gene is this gene This disease-associated gene is EGFR (hgnc:3236). hgnc:3236 is a gene from the HUGO Gene Nomenclature Committee.
1p/19q (Whole-Arm Codeletion)
CDKN2A (Homozygous Deletion)
Gene: CDKN2A hgnc:1787 HUGO Gene Nomenclature Committee (hgnc) Relation: this disease-associated gene is this gene This disease-associated gene is CDKN2A (hgnc:1787). hgnc:1787 is a gene from the HUGO Gene Nomenclature Committee.
CDKN2B (Homozygous Deletion)
Gene: CDKN2B hgnc:1788 HUGO Gene Nomenclature Committee (hgnc) Relation: this disease-associated gene is this gene This disease-associated gene is CDKN2B (hgnc:1788). hgnc:1788 is a gene from the HUGO Gene Nomenclature Committee.
Germline Cancer-Predisposition Variants (Germline Pathogenic Variant)
Show evidence (1 reference)
PMID:37720399 SUPPORT Human Clinical
"We identified 152 glioma patients of which 15 (9.8%) had pathogenic"
About 10% of adult-type diffuse glioma patients harbored pathogenic germline variants in a paired tumor/normal series.
💊

Medical Actions

7
Maximal Safe Surgical Resection
Action: Surgical ProcedureNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is Surgical Procedure (NCIT:C15329). NCIT:C15329 is a clinical intervention from the NCI Thesaurus. NCIT:C15329
Maximal safe resection of the tumor; extent of resection is prognostic, but the infiltrative nature of diffuse glioma precludes complete removal.
Radiotherapy
Action: Radiation TherapyNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is Radiation Therapy (NCIT:C15313). NCIT:C15313 is a clinical intervention from the NCI Thesaurus. NCIT:C15313
Fractionated external-beam radiotherapy, a component of standard of care for newly diagnosed high-grade glioma.
Show evidence (1 reference)
PMID:37540408 SUPPORT Human Clinical
"Radiotherapy (RT) and chemotherapy (CTX) are the current standard of care for"
Radiotherapy with chemotherapy is the standard of care for newly diagnosed high-grade glioma.
Temozolomide Chemotherapy (Stupp Regimen)
Action: ChemotherapyNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is Chemotherapy (NCIT:C15632). NCIT:C15632 is a clinical intervention from the NCI Thesaurus. NCIT:C15632
Agent: temozolomide CHEBI:72564 Chemical Entities of Biological Interest (CHEBI) Relation: this treatment uses this therapeutic agent This treatment uses temozolomide (CHEBI:72564). CHEBI:72564 is a therapeutic agent from Chemical Entities of Biological Interest.
Alkylating chemotherapy with temozolomide given concomitantly with and adjuvant to radiotherapy (Stupp regimen) for newly diagnosed high-grade glioma/glioblastoma.
Show evidence (1 reference)
PMID:37540408 SUPPORT Human Clinical
"Radiotherapy (RT) and chemotherapy (CTX) are the current standard of care for"
Chemotherapy (temozolomide) with radiotherapy is standard of care for high-grade glioma.
Tumor Treating Fields (TTFields)
Action: Tumor Treating Fields TherapyNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is Tumor Treating Fields Therapy (NCIT:C146882). NCIT:C146882 is a clinical intervention from the NCI Thesaurus. NCIT:C146882
Device-delivered alternating electric fields added to maintenance temozolomide after chemoradiation in newly diagnosed glioblastoma; associated with improved overall survival in real-world meta-analysis.
Show evidence (1 reference)
PMID:37493865 SUPPORT Human Clinical
"a significant improvement in OS for patients receiving"
Adding TTFields to standard chemoradiotherapy significantly improved overall survival (HR 0.63).
Vorasidenib (Mutant IDH Inhibitor)
Action: PharmacotherapyNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is Pharmacotherapy (NCIT:C15986). NCIT:C15986 is a clinical intervention from the NCI Thesaurus. NCIT:C15986
Agent: vorasidenib NCIT:C152914 NCI Thesaurus (NCIT) Relation: this treatment uses this therapeutic agent This treatment uses vorasidenib (NCIT:C152914). NCIT:C152914 is a therapeutic agent from the NCI Thesaurus.
Oral brain-penetrant inhibitor of mutant IDH1/IDH2; in the phase 3 INDIGO trial it improved progression-free survival in residual/recurrent grade 2 IDH-mutant glioma after surgery only.
Show evidence (1 reference)
PMID:37272516 SUPPORT Human Clinical
"median progression-free survival, 27.7 months"
Vorasidenib significantly prolonged progression-free survival versus placebo in grade 2 IDH-mutant glioma.
Dexamethasone (Peritumoral Edema Management)
Action: PharmacotherapyNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is Pharmacotherapy (NCIT:C15986). NCIT:C15986 is a clinical intervention from the NCI Thesaurus. NCIT:C15986
Agent: dexamethasone CHEBI:41879 Chemical Entities of Biological Interest (CHEBI) Relation: this treatment uses this therapeutic agent This treatment uses dexamethasone (CHEBI:41879). CHEBI:41879 is a therapeutic agent from Chemical Entities of Biological Interest.
Corticosteroid used to control peritumoral vasogenic edema and mass-effect symptoms; supportive rather than disease-modifying.
Levetiracetam (Seizure Management)
Action: PharmacotherapyNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is Pharmacotherapy (NCIT:C15986). NCIT:C15986 is a clinical intervention from the NCI Thesaurus. NCIT:C15986
Agent: levetiracetam CHEBI:6437 Chemical Entities of Biological Interest (CHEBI) Relation: this treatment uses this therapeutic agent This treatment uses levetiracetam (CHEBI:6437). CHEBI:6437 is a therapeutic agent from Chemical Entities of Biological Interest.
First-line antiepileptic monotherapy for glioma-associated seizures; prophylactic use in seizure-naive patients is not generally recommended.
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Prevalence

2
Belgium (adult-type diffuse glioma)
Annual Incidence 8.55 per 100,000 1–9 per 100,000
Age-standardized incidence rate of diffuse adult-type glioma in Belgium (2017-2019), molecular era; 6.72 per 100,000 person-years for grade 4 lesions.
Show evidence (1 reference)
PMID:37651614 SUPPORT Human Clinical
"The age-standardized incidence rate of diffuse adult-type glioma in Belgium was"
Population-registry age-standardized incidence for adult-type diffuse glioma.
United States (all primary brain/CNS tumors)
Annual Incidence 6.89 per 100,000 1–9 per 100,000
CBTRUS (US, 2017-2021): gliomas accounted for 22.9% of all primary brain/CNS tumors; malignant brain/CNS tumor incidence 6.89 per 100,000.
Show evidence (1 reference)
PMID:39371035 SUPPORT Human Clinical
"Gliomas accounted for 22.9% of all tumors."
CBTRUS population registry reports glioma share of primary CNS tumors and malignant CNS tumor incidence.
📊

Related Datasets

9
RNA-seq profiling of 14 paired primary and recurrent glioma cases geo:GSE339484
Glioma recurrence remains a major clinical challenge and is associated with poor patient outcomes. To characterize transcriptomic alterations associated with tumor recurrence, we performed bulk RNA sequencing on paired primary and recurrent glioma tissue specimens from 14 patients. According to the 2021 World Health Organization (WHO) Classification of Central Nervous System Tumors, glioblastoma is defined as IDH-wildtype (IDH-wt), CNS WHO grade 4. Based on these criteria, 11 paired cases were classified as glioblastoma (IDH-wt, grade 4), while three paired cases with IDH-mutant, grade 3 gliomas were included as a comparison group.
human BULK RNA SEQ n=28
PMID:40658067
Identified by GEO DataSets index search for Glioma (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
KPNA3 drives temozolomide resistance in glioblastoma by upregulating MGMT and activating STAT3 to sustain glioma stem cells geo:GSE327029
Glioblastoma (GBM) invariably develops resistance to temozolomide (TMZ), the frontline chemotherapeutic agent, leading to treatment failure. The molecular mechanisms underlying this resistance remain incompletely understood. Here, we identify karyopherin subunit alpha 3 (KPNA3) as a novel and critical driver of TMZ resistance. Through integrated bioinformatics analysis of temozolomide-resistant glioma cells (SF126R) and patient databases, we found KPNA3 expression is elevated in TMZ-resistant contexts and correlates with poor prognosis in TMZ-treated patients.
human BULK RNA SEQ n=12
PMID:42295990
Identified by GEO DataSets index search for Glioma (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
Endothelins influences the proliferation-migration balance of IDH1-mutant glioma cells and promotes proneural to mesenchymal transition [RNAseq-Gb7-HUVEC] geo:GSE298358
Adult diffuse gliomas are the deadliest brain tumours including IDH-wildtype glioblastomas of worst prognosis and diffuse low grade IDH-mutant astrocytomas and oligodendrogliomas. These glial tumours display distinct tumoral cell population defeating current therapies. Our group has unveiled the role of NOTCH signalling in glioblastoma cell plasticity and in the conversion of oligodendrocytic-like to astrocytic-like tumoral cells in IDH-mutant low-grade gliomas which escalate inevitably to higher grade malignant gliomas.
human BULK RNA SEQ n=12
PMID:42026941
Identified by GEO DataSets index search for Glioma (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma ega:EGAS00001000579
Tumor recurrence is a leading cause of cancer mortality. Therapies for recurrent disease may fail, at least in part, because the genomic alterations driving the growth of recurrences are distinct from those in the initial tumor. To explore this hypothesis, we sequenced the exomes of 23 initial low-grade gliomas and recurrent tumors resected from the same patients. In 43% of cases, at least half of the mutations in the initial tumor were undetected at recurrence, including driver mutations inTP53, ATRX, SMARCA4, and BRAF; this suggests that recurrent tumors are often seeded by cells derived from the initial tumor at a very early stage of their evolution.
human WES
PMID:24336570
European Genome-phenome Archive study, matched because the disease is named in the study's own title ("Glioma"); description-level mentions were not accepted. EGA study_type: Exome Sequencing. Controlled access -- data require a Data Access Agreement. EGA metadata retrieved 2026-08-01.
Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis ega:EGAS00001001258
To identify protein altering variants (PAVs) for glioma we analysed Illumina HumanExome BeadChip exome array data on 1,882 glioma cases and 8,079 controls from three independent European populations. In addition to single variant tests we incorporated information on the predicted functional consequences of PAVs and analysed sets of genes with a higher likelihood of having a role in glioma on the basis of the profile of somatic mutations documented by large-scale sequencing initiatives. Globally there was a strong relationship between effect size and SNPs predicted to be damaging (P=2.29x10-49); however, these variants which are most likely to impact on risk, are rare (MAF<5%).
human
European Genome-phenome Archive study, matched because the disease is named in the study's own title ("Glioma"); description-level mentions were not accepted. EGA study_type: Other. Controlled access -- data require a Data Access Agreement. EGA metadata retrieved 2026-08-01.
Chromatin immunoprecipitation linked to next-generation whole genome sequencing (ChIP-Seq) for H3K36me3 in paediatric high grade glioma cell lines KKNS4 and SF188 with and without a G34V mutation in H3F3A ega:EGAS00001001437
Glioblastomas of children and young adults have a median survival of only 12-15months and are clinically and biologically distinct from histologically similar cancers in older adults1. They are defined by highly specific mutations in the gene encoding the histone H3.3 variant H3F3A2, occurring either at or close to key residues marked by methylation for regulation of transcription – K27 and G34. We performed chromatin immunoprecipitation linked to next-generation whole genome sequencing (ChIP-Seq) for H3K36me3 in order to test the hypothesis that, rather than total H3K36me3, the G34V mutation may instead result in differential binding of the trimethyl mark throughout the genome.
human
European Genome-phenome Archive study, matched because the disease is named in the study's own title ("Glioma"); description-level mentions were not accepted. EGA study_type: Other. Controlled access -- data require a Data Access Agreement. EGA metadata retrieved 2026-08-01.
IDH1 and Glioma knockdown idh1 (part II) metabolomics_workbench:ST000199
Located via OmicsDI, which aggregates across omics repositories; this record comes from metabolomics_workbench. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Glioma"). Retrieved 2026-08-02.
Nude mice orthotopically implanted with human glioma cell lines metabolomics_workbench:ST001064
mouse METABOLOMICS
Located via OmicsDI, which aggregates across omics repositories; this record comes from metabolomics_workbench. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Glioma"). Retrieved 2026-08-02.
2 hydroxyglutarate prodution in neurospheres from IDH1 mouse glioma model #2 metabolomics_workbench:ST000820
mouse METABOLOMICS
Located via OmicsDI, which aggregates across omics repositories; this record comes from metabolomics_workbench. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Glioma"). Retrieved 2026-08-02.
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Clinical Trials

1
NCT04164901 PHASE_III COMPLETED
INDIGO: phase 3, randomized, double-blind, placebo-controlled trial of vorasidenib in residual or recurrent grade 2 IDH1/IDH2-mutant glioma after surgery only.
Target Phenotypes: Seizure HP:0001250 Human Phenotype Ontology (HP) Relation: this clinical trial targets this phenotype This clinical trial targets Seizure (HP:0001250). HP:0001250 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
clinicaltrials:NCT04164901 SUPPORT Human Clinical
"comparing the efficacy of vorasidenib to placebo in participants with residual or recurrent Grade 2 glioma with an IDH1 or IDH2 mutation who have undergone surgery as their only treatment."
Registered phase 3 trial establishing vorasidenib efficacy in grade 2 IDH-mutant glioma.
{ }

Source YAML

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name: Glioma
creation_date: "2026-07-08T00:00:00Z"
category: Cancer
parents:
- neuroepithelial neoplasm
disease_term:
  preferred_term: glioma
  term:
    id: MONDO:0021042
    label: glioma
description: >-
  Glioma is the umbrella class of primary central nervous system tumors that
  arise from glial cells or glial/neural precursor cells — encompassing
  astrocytic, oligodendroglial, ependymal, and mixed neuronal-glial lineages and
  spanning WHO CNS grades 1-4. Under the 5th-edition WHO Classification of Tumors
  of the Central Nervous System (WHO CNS5, 2021), gliomas are organized primarily
  by molecular type rather than histology alone, using a layered "integrated
  diagnosis." Adult-type diffuse gliomas collapse into three molecularly defined
  types (astrocytoma, IDH-mutant; oligodendroglioma, IDH-mutant and
  1p/19q-codeleted; and glioblastoma, IDH-wildtype), while pediatric-type diffuse
  gliomas, circumscribed astrocytic gliomas, and ependymal tumors form separate
  families. Shared molecular axes — IDH1/2 mutation, 1p/19q codeletion, TERT
  promoter mutation, EGFR amplification, combined chromosome 7 gain / chromosome
  10 loss (+7/-10), CDKN2A/B homozygous deletion, and H3 alterations — define
  entities and increasingly drive grading. This root entry captures the conserved
  glial-tumor mechanism and cross-references the molecularly/histologically
  defined children curated as standalone dismech entries.
has_subtypes:
- name: Glioblastoma, IDH-Wildtype
  description: >-
    Most aggressive adult-type diffuse glioma (WHO grade 4), IDH-wildtype,
    diagnosable by classic histology or by glioblastoma-defining molecular
    features (TERT promoter mutation, EGFR amplification, and/or +7/-10). Curated
    as a standalone dismech entry (Glioblastoma_IDH_Wildtype; MONDO:0850335).
  evidence:
  - reference: PMID:35869291
    reference_title: "2021 WHO classification of tumours of the central nervous system: a review for the neuroradiologist."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The principal updates in adult tumours concern the molecular definition of glioblastoma, restructuring of diffuse gliomas, and the introduction of several new tumour types."
    explanation: WHO CNS5 gives glioblastoma a molecular (IDH-wildtype) definition, the basis for this subtype.
- name: IDH-Mutant Astrocytoma
  description: >-
    Adult-type diffuse glioma (WHO grade 2-4) defined by IDH1/2 mutation without
    1p/19q codeletion, commonly with ATRX loss and TP53 mutation; prognosis is
    significantly better than IDH-wildtype glioblastoma. CDKN2A/B homozygous
    deletion upgrades the tumor to grade 4. Curated as a standalone dismech entry
    (IDH_Mutant_Astrocytoma; MONDO:0956994).
  evidence:
  - reference: PMID:36717507
    reference_title: "Updates on the WHO diagnosis of IDH-mutant glioma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "For the first time molecular features are not only relevant for the classification of IDH-mutant gliomas but may impact grading as well."
    explanation: IDH mutation (without 1p/19q codeletion) with astrocytic-lineage markers defines IDH-mutant astrocytoma under WHO CNS5, where molecular features also drive grading.
- name: IDH-Mutant and 1p/19q-Codeleted Oligodendroglioma
  description: >-
    Adult-type diffuse glioma (WHO grade 2-3) defined by the combination of
    IDH1/2 mutation and whole-arm 1p/19q codeletion; generally the most
    favorable-prognosis adult diffuse glioma. Curated as a standalone dismech entry
    (IDH_Mutant_Oligodendroglioma; MONDO:0859592).
  evidence:
  - reference: PMID:36717507
    reference_title: "Updates on the WHO diagnosis of IDH-mutant glioma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "For the first time molecular features are not only relevant for the classification of IDH-mutant gliomas but may impact grading as well."
    explanation: IDH mutation status (with 1p/19q codeletion for oligodendroglioma) defines and grades this subtype under WHO CNS5.
- name: Diffuse Midline Glioma, H3 K27-Altered
  description: >-
    Pediatric-type diffuse high-grade glioma (WHO grade 4) of midline structures,
    defined by loss of H3 K27 trimethylation (H3 K27M mutation or EZHIP
    overexpression). Curated as a standalone dismech entry
    (H3_K27_Altered_Diffuse_Midline_Glioma; MONDO:1060171).
  evidence:
  - reference: PMID:35869291
    reference_title: "2021 WHO classification of tumours of the central nervous system: a review for the neuroradiologist."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "establishing separate tumour families for paediatric-type gliomas"
    explanation: WHO CNS5 established separate paediatric-type glioma families, the framework under which diffuse midline glioma, H3 K27-altered is defined.
- name: Mixed Neuronal-Glial Tumor
  description: >-
    Tumors with combined neuronal and glial differentiation (e.g., ganglioglioma,
    dysembryoplastic neuroepithelial tumor), typically low-grade and frequently
    epilepsy-associated. Curated as a standalone dismech entry
    (Mixed_Neuronal-Glial_Tumor; MONDO:0016729).
  evidence:
  - reference: PMID:35869291
    reference_title: "2021 WHO classification of tumours of the central nervous system: a review for the neuroradiologist."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "revision of diagnostic criteria for some of the existing neoplasms"
    explanation: WHO CNS5 revised diagnostic criteria across CNS tumour families, including the neuronal and mixed neuronal-glial tumours grouped here.
- name: Pilocytic Astrocytoma
  description: >-
    Circumscribed astrocytic glioma (WHO grade 1), the most common paediatric
    glioma, typically driven by KIAA1549-BRAF fusion or BRAF V600E and a distinct
    WHO CNS5 family from the adult-type diffuse gliomas. Curated as a standalone
    dismech entry (Pilocytic_Astrocytoma; MONDO:0016691).
  evidence:
  - reference: PMID:35869291
    reference_title: "2021 WHO classification of tumours of the central nervous system: a review for the neuroradiologist."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "WHO CNS5 places greater emphasis on organising tumours by molecular type to reflect biology"
    explanation: WHO CNS5 organises tumours by molecular type; pilocytic astrocytoma is defined by its characteristic BRAF alteration within the circumscribed astrocytic glioma family.
pathophysiology:
- name: Glial-Lineage Neoplastic Transformation
  description: >-
    Gliomas arise from neoplastic transformation of glial cells or glial/neural
    stem and progenitor cells, producing highly infiltrative (diffuse) or
    circumscribed CNS tumors. Cell-of-origin lineage (astrocytic,
    oligodendroglial, ependymal, or mixed neuronal-glial) together with molecular
    alterations underpins the WHO CNS5 integrated diagnosis.
  cell_types:
  - preferred_term: glial cell
    term:
      id: CL:0000125
      label: glial cell
  - preferred_term: neural stem cell
    term:
      id: CL:0000047
      label: neural stem cell
  biological_processes:
  - preferred_term: gliogenesis
    term:
      id: GO:0042063
      label: gliogenesis
    modifier: ABNORMAL
  - preferred_term: cell population proliferation
    term:
      id: GO:0008283
      label: cell population proliferation
    modifier: INCREASED
  downstream:
  - target: IDH-Mutation Oncometabolite Epigenetic Reprogramming
    description: Transformed glial-lineage cells acquire the canonical molecular lesions that define glioma type.
  - target: TERT Promoter Mutation and Telomere Maintenance Reactivation
    description: Transformed cells acquire TERT promoter mutation, a glioblastoma-defining lesion enabling replicative immortality.
  - target: Chromosomal Copy-Number Alteration and Genomic Instability
    description: Transformed cells acquire large-scale copy-number alterations (+7/-10, 1p/19q codeletion, CDKN2A/B loss) that define glioma type and grade.
  - target: EGFR Amplification and RTK-RAS-PI3K Mitogenic Signaling
    description: Transformed cells acquire EGFR amplification (a glioblastoma-defining lesion) driving constitutive mitogenic signaling.
  - target: Diffuse Infiltrative Growth
    description: Transformed cells infiltrate brain parenchyma along white-matter tracts.
  evidence:
  - reference: PMID:36534419
    reference_title: "Adult type diffuse gliomas in the new 2021 WHO Classification."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Adult-type diffuse gliomas represent a group of highly infiltrative central"
    explanation: Adult-type diffuse gliomas are highly infiltrative CNS tumors of glial lineage.
- name: IDH-Mutation Oncometabolite Epigenetic Reprogramming
  description: >-
    IDH1 or IDH2 mutation is the primary biological divider of adult-type diffuse
    glioma. Mutant IDH acquires neomorphic activity producing the oncometabolite
    D-2-hydroxyglutarate, which competitively inhibits
    alpha-ketoglutarate-dependent dioxygenases (TET DNA demethylases and histone
    demethylases),
    yielding a glioma CpG-island methylator phenotype and a block in glial
    differentiation. IDH-mutant tumors carry a more favorable prognosis than
    IDH-wildtype.
  cell_types:
  - preferred_term: astrocyte
    term:
      id: CL:0000127
      label: astrocyte
  biological_processes:
  - preferred_term: chromatin organization
    term:
      id: GO:0006325
      label: chromatin organization
    modifier: ABNORMAL
  - preferred_term: demethylation
    term:
      id: GO:0070988
      label: demethylation
    modifier: DECREASED
  - preferred_term: glial cell differentiation
    term:
      id: GO:0010001
      label: glial cell differentiation
    modifier: DECREASED
  evidence:
  - reference: PMID:36717507
    reference_title: "Updates on the WHO diagnosis of IDH-mutant glioma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "For the first time molecular features are not only relevant for the classification of IDH-mutant gliomas but may impact grading as well."
    explanation: IDH mutation is the defining molecular feature separating IDH-mutant from IDH-wildtype gliomas and informs grading.
  - reference: PMID:38760442
    reference_title: "IDH inhibition in gliomas: from preclinical models to clinical trials."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "D-2-HG promotes DNA and histone hypermethylation."
    explanation: The IDH-mutant oncometabolite D-2-hydroxyglutarate drives DNA and histone hypermethylation, the epigenetic reprogramming underlying the glioma CpG-island methylator phenotype.
  - reference: PMID:36534419
    reference_title: "Adult type diffuse gliomas in the new 2021 WHO Classification."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Diagnosis of adult type diffuse gliomas, IDH"
    explanation: WHO CNS5 anchors adult-type diffuse glioma diagnosis on IDH mutation status.
- name: TERT Promoter Mutation and Telomere Maintenance Reactivation
  conforms_to: "enabling_replicative_immortality#Telomere Maintenance Reactivation"
  description: >-
    TERT promoter mutation reactivates telomerase, enabling telomere maintenance
    and replicative immortality. TERT promoter mutation is one of the three
    glioblastoma-defining molecular markers (with EGFR amplification and +7/-10)
    and also occurs frequently in oligodendroglioma.
  biological_processes:
  - preferred_term: telomere maintenance
    term:
      id: GO:0000723
      label: telomere maintenance
    modifier: INCREASED
  - preferred_term: cell population proliferation
    term:
      id: GO:0008283
      label: cell population proliferation
    modifier: INCREASED
  downstream:
  - target: Diffuse Infiltrative Growth
    description: Telomerase reactivation confers replicative immortality that sustains continued tumor-cell proliferation and growth.
  evidence:
  - reference: PMID:38760442
    reference_title: "IDH inhibition in gliomas: from preclinical models to clinical trials."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "bind the mutated TERT promoter and upregulate TERT expression"
    explanation: RNA polymerase II binding the mutated TERT promoter upregulates TERT expression, reactivating telomerase and enabling telomere maintenance in glioma.
- name: EGFR Amplification and RTK-RAS-PI3K Mitogenic Signaling
  conforms_to: "sustaining_proliferative_signaling#Constitutive Mitogenic Pathway Activation"
  description: >-
    EGFR amplification (often with the EGFRvIII variant) and related receptor
    tyrosine kinase lesions drive constitutive RAS-MAPK and PI3K-AKT-mTOR
    mitogenic signaling and growth-factor-independent proliferation. EGFR
    amplification is one of the three glioblastoma-defining molecular features.
  biological_processes:
  - preferred_term: epidermal growth factor receptor signaling pathway
    term:
      id: GO:0007173
      label: epidermal growth factor receptor signaling pathway
    modifier: INCREASED
  - preferred_term: cell population proliferation
    term:
      id: GO:0008283
      label: cell population proliferation
    modifier: INCREASED
  downstream:
  - target: Diffuse Infiltrative Growth
    description: Sustained mitogenic signaling promotes tumor cell proliferation and invasion.
  evidence:
  - reference: PMID:37540408
    reference_title: "SEOM-GEINO clinical guidelines for high-grade gliomas of adulthood (2022)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "EGFR amplification, and TERT promoter mutation are diagnostic"
    explanation: EGFR amplification is one of the glioblastoma-defining molecular alterations under WHO CNS5 (diagnostic of grade 4 IDH-wildtype glioblastoma). The RTK-RAS-PI3K signaling mechanism this node also describes still needs a dedicated source.
- name: Chromosomal Copy-Number Alteration and Genomic Instability
  conforms_to: "genome_instability_mutation#Mutator Phenotype and Chromosomal Instability"
  description: >-
    Glioma types are defined in part by large-scale chromosomal copy-number
    alterations: combined whole chromosome 7 gain and chromosome 10 loss (+7/-10)
    and CDKN2A/B homozygous deletion in IDH-wildtype glioblastoma; whole-arm
    1p/19q codeletion in oligodendroglioma; and CDKN2A/B loss upgrading IDH-mutant
    astrocytoma to grade 4. These reflect underlying chromosomal instability.
  biological_processes:
  - preferred_term: chromosome organization
    term:
      id: GO:0051276
      label: chromosome organization
    modifier: ABNORMAL
  downstream:
  - target: Diffuse Infiltrative Growth
    description: Chromosomal instability drives clonal evolution that sustains tumor progression and infiltrative growth.
  evidence:
  - reference: PMID:36717507
    reference_title: "Updates on the WHO diagnosis of IDH-mutant glioma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "whole-arm 1p/19q codeletion and TERT promoter"
    explanation: Whole-arm 1p/19q codeletion is a defining large-scale chromosomal copy-number alteration under WHO CNS5, exemplifying the copy-number changes this node describes.
- name: Diffuse Infiltrative Growth
  description: >-
    Diffuse gliomas grow by single-cell infiltration of brain parenchyma along
    white-matter tracts and perivascular/subpial routes, precluding complete
    surgical resection and driving recurrence despite therapy.
  cell_types:
  - preferred_term: glial cell
    term:
      id: CL:0000125
      label: glial cell
  biological_processes:
  - preferred_term: cell migration
    term:
      id: GO:0016477
      label: cell migration
    modifier: INCREASED
  evidence:
  - reference: PMID:36534419
    reference_title: "Adult type diffuse gliomas in the new 2021 WHO Classification."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Adult-type diffuse gliomas represent a group of highly infiltrative central"
    explanation: Diffuse gliomas are characterized by highly infiltrative growth in the CNS.
phenotypes:
- name: Seizure
  category: Neurological
  frequency: FREQUENT
  phenotype_term:
    preferred_term: Seizure
    term:
      id: HP:0001250
      label: Seizure
  evidence:
  - reference: PMID:37540408
    reference_title: "SEOM-GEINO clinical guidelines for high-grade gliomas of adulthood (2022)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The most prevalent symptoms include seizures"
    explanation: Seizures are among the most prevalent presenting symptoms of glioma.
- name: Headache
  category: Neurological
  phenotype_term:
    preferred_term: Headache
    term:
      id: HP:0002315
      label: Headache
  evidence:
  - reference: PMID:37540408
    reference_title: "SEOM-GEINO clinical guidelines for high-grade gliomas of adulthood (2022)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "dysphagia, headache, confusion"
    explanation: Headache is listed among the prevalent symptoms of high-grade glioma.
- name: Cognitive Impairment
  category: Neurological
  phenotype_term:
    preferred_term: Cognitive impairment
    term:
      id: HP:0100543
      label: Cognitive impairment
  evidence:
  - reference: PMID:37540408
    reference_title: "SEOM-GEINO clinical guidelines for high-grade gliomas of adulthood (2022)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The presence of neurological deficits and seizures can significantly impact quality of life."
    explanation: Cognitive/neurological deficits are frequent, quality-of-life-limiting features of glioma.
- name: Aphasia
  category: Neurological
  phenotype_term:
    preferred_term: Aphasia
    term:
      id: HP:0002381
      label: Aphasia
  evidence:
  - reference: PMID:37540408
    reference_title: "SEOM-GEINO clinical guidelines for high-grade gliomas of adulthood (2022)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "aphasia, motor deficits, fatigue"
    explanation: Aphasia is listed among the prevalent symptoms of high-grade glioma.
- name: Focal Motor Deficit
  category: Neurological
  phenotype_term:
    preferred_term: Motor deficits
    term:
      id: HP:0001324
      label: Muscle weakness
  evidence:
  - reference: PMID:37540408
    reference_title: "SEOM-GEINO clinical guidelines for high-grade gliomas of adulthood (2022)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "aphasia, motor deficits, fatigue"
    explanation: Focal motor deficits are listed among the prevalent symptoms of high-grade glioma.
- name: Fatigue
  category: Constitutional
  phenotype_term:
    preferred_term: Fatigue
    term:
      id: HP:0012378
      label: Fatigue
  evidence:
  - reference: PMID:37540408
    reference_title: "SEOM-GEINO clinical guidelines for high-grade gliomas of adulthood (2022)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "aphasia, motor deficits, fatigue"
    explanation: Fatigue is listed among the prevalent symptoms of high-grade glioma.
- name: Dysphagia
  category: Neurological
  phenotype_term:
    preferred_term: Dysphagia
    term:
      id: HP:0002015
      label: Dysphagia
  evidence:
  - reference: PMID:37540408
    reference_title: "SEOM-GEINO clinical guidelines for high-grade gliomas of adulthood (2022)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "dysphagia, headache, confusion"
    explanation: Dysphagia is listed among the prevalent symptoms of high-grade glioma.
genetic:
- name: IDH1
  gene_term:
    preferred_term: IDH1
    term:
      id: hgnc:5382
      label: IDH1
  association: Somatic Missense Mutation
  notes: >-
    IDH1 (most often R132H) mutation defines IDH-mutant astrocytoma and
    oligodendroglioma and is the primary molecular divider of adult-type diffuse
    glioma. IDH-mutant tumors carry a more favorable prognosis than IDH-wildtype.
  evidence:
  - reference: PMID:36717507
    reference_title: "Updates on the WHO diagnosis of IDH-mutant glioma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "For the first time molecular features are not only relevant for the classification of IDH-mutant gliomas but may impact grading as well."
    explanation: IDH mutation is the defining, grading-relevant molecular feature of IDH-mutant glioma.
- name: IDH2
  gene_term:
    preferred_term: IDH2
    term:
      id: hgnc:5383
      label: IDH2
  association: Somatic Missense Mutation
  notes: >-
    IDH2 mutation is a less common alternative to IDH1 mutation and produces the
    same D-2-hydroxyglutarate oncometabolite; it likewise defines IDH-mutant
    adult-type diffuse glioma.
- name: TERT
  gene_term:
    preferred_term: TERT
    term:
      id: hgnc:11730
      label: TERT
  association: Promoter Mutation
  notes: >-
    TERT promoter mutation reactivates telomerase and is one of three
    glioblastoma-defining molecular markers; also frequent in oligodendroglioma.
- name: EGFR
  gene_term:
    preferred_term: EGFR
    term:
      id: hgnc:3236
      label: EGFR
  association: Amplification
  notes: >-
    EGFR amplification (frequently with EGFRvIII) is one of three
    glioblastoma-defining molecular features and activates RTK-RAS-PI3K signaling.
- name: 1p/19q
  association: Whole-Arm Codeletion
  notes: >-
    Whole-arm codeletion of chromosomes 1p and 19q, together with IDH mutation,
    defines oligodendroglioma. This is a chromosomal codeletion, not a single-gene
    lesion, so it carries no gene_term.
- name: CDKN2A
  gene_term:
    preferred_term: CDKN2A
    term:
      id: hgnc:1787
      label: CDKN2A
  association: Homozygous Deletion
  notes: >-
    Homozygous deletion of CDKN2A (with the adjacent CDKN2B) is a WHO CNS5 grade-4
    criterion in IDH-mutant astrocytoma and is common in IDH-wildtype glioblastoma.
- name: CDKN2B
  gene_term:
    preferred_term: CDKN2B
    term:
      id: hgnc:1788
      label: CDKN2B
  association: Homozygous Deletion
  notes: >-
    CDKN2B is co-deleted with CDKN2A at 9p21; homozygous CDKN2A/B loss upgrades
    IDH-mutant astrocytoma to grade 4 and is frequent in IDH-wildtype glioblastoma.
- name: Germline Cancer-Predisposition Variants
  association: Germline Pathogenic Variant
  notes: >-
    Most gliomas are sporadic, but a clinically meaningful minority carry
    pathogenic germline variants (e.g., BRCA2, MUTYH, CHEK2, NF1, mismatch-repair
    genes), with implications for surveillance and cascade testing.
  evidence:
  - reference: PMID:37720399
    reference_title: "Prevalence of pathogenic germline variants in adult-type diffuse glioma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "We identified 152 glioma patients of which 15 (9.8%) had pathogenic"
    explanation: About 10% of adult-type diffuse glioma patients harbored pathogenic germline variants in a paired tumor/normal series.
treatments:
- name: Maximal Safe Surgical Resection
  description: >-
    Maximal safe resection of the tumor; extent of resection is prognostic, but
    the infiltrative nature of diffuse glioma precludes complete removal.
  treatment_term:
    preferred_term: Surgical Procedure
    term:
      id: NCIT:C15329
      label: Surgical Procedure
- name: Radiotherapy
  description: >-
    Fractionated external-beam radiotherapy, a component of standard of care for
    newly diagnosed high-grade glioma.
  treatment_term:
    preferred_term: Radiation Therapy
    term:
      id: NCIT:C15313
      label: Radiation Therapy
  evidence:
  - reference: PMID:37540408
    reference_title: "SEOM-GEINO clinical guidelines for high-grade gliomas of adulthood (2022)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Radiotherapy (RT) and chemotherapy (CTX) are the current standard of care for"
    explanation: Radiotherapy with chemotherapy is the standard of care for newly diagnosed high-grade glioma.
- name: Temozolomide Chemotherapy (Stupp Regimen)
  description: >-
    Alkylating chemotherapy with temozolomide given concomitantly with and
    adjuvant to radiotherapy (Stupp regimen) for newly diagnosed high-grade
    glioma/glioblastoma.
  treatment_term:
    preferred_term: Chemotherapy
    term:
      id: NCIT:C15632
      label: Chemotherapy
    therapeutic_agent:
    - preferred_term: temozolomide
      term:
        id: CHEBI:72564
        label: temozolomide
  evidence:
  - reference: PMID:37540408
    reference_title: "SEOM-GEINO clinical guidelines for high-grade gliomas of adulthood (2022)."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Radiotherapy (RT) and chemotherapy (CTX) are the current standard of care for"
    explanation: Chemotherapy (temozolomide) with radiotherapy is standard of care for high-grade glioma.
- name: Tumor Treating Fields (TTFields)
  description: >-
    Device-delivered alternating electric fields added to maintenance
    temozolomide after chemoradiation in newly diagnosed glioblastoma; associated
    with improved overall survival in real-world meta-analysis.
  therapeutic_modality: DEVICE
  treatment_term:
    preferred_term: Tumor Treating Fields Therapy
    term:
      id: NCIT:C146882
      label: Tumor Treating Fields Therapy
  evidence:
  - reference: PMID:37493865
    reference_title: "Association of Tumor Treating Fields (TTFields) therapy with survival in newly diagnosed glioblastoma: a systematic review and meta-analysis."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "a significant improvement in OS for patients receiving"
    explanation: Adding TTFields to standard chemoradiotherapy significantly improved overall survival (HR 0.63).
- name: Vorasidenib (Mutant IDH Inhibitor)
  description: >-
    Oral brain-penetrant inhibitor of mutant IDH1/IDH2; in the phase 3 INDIGO
    trial it improved progression-free survival in residual/recurrent grade 2
    IDH-mutant glioma after surgery only.
  therapeutic_modality: SMALL_MOLECULE
  treatment_term:
    preferred_term: Pharmacotherapy
    term:
      id: NCIT:C15986
      label: Pharmacotherapy
    therapeutic_agent:
    - preferred_term: vorasidenib
      term:
        id: NCIT:C152914
        label: Vorasidenib
  evidence:
  - reference: PMID:37272516
    reference_title: "Vorasidenib in IDH1- or IDH2-Mutant Low-Grade Glioma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "median progression-free survival, 27.7 months"
    explanation: Vorasidenib significantly prolonged progression-free survival versus placebo in grade 2 IDH-mutant glioma.
- name: Dexamethasone (Peritumoral Edema Management)
  description: >-
    Corticosteroid used to control peritumoral vasogenic edema and mass-effect
    symptoms; supportive rather than disease-modifying.
  therapeutic_modality: SMALL_MOLECULE
  treatment_term:
    preferred_term: Pharmacotherapy
    term:
      id: NCIT:C15986
      label: Pharmacotherapy
    therapeutic_agent:
    - preferred_term: dexamethasone
      term:
        id: CHEBI:41879
        label: dexamethasone
- name: Levetiracetam (Seizure Management)
  description: >-
    First-line antiepileptic monotherapy for glioma-associated seizures;
    prophylactic use in seizure-naive patients is not generally recommended.
  therapeutic_modality: SMALL_MOLECULE
  treatment_term:
    preferred_term: Pharmacotherapy
    term:
      id: NCIT:C15986
      label: Pharmacotherapy
    therapeutic_agent:
    - preferred_term: levetiracetam
      term:
        id: CHEBI:6437
        label: levetiracetam
prevalence:
- population: Belgium (adult-type diffuse glioma)
  measure_type: ANNUAL_INCIDENCE
  prevalence_class: BAND_1_9_PER_100000
  rate_per_100000: 8.55
  notes: >-
    Age-standardized incidence rate of diffuse adult-type glioma in Belgium
    (2017-2019), molecular era; 6.72 per 100,000 person-years for grade 4 lesions.
  evidence:
  - reference: PMID:37651614
    reference_title: "Epidemiology and survival of adult-type diffuse glioma in Belgium during the molecular era."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The age-standardized incidence rate of diffuse adult-type glioma in Belgium was"
    explanation: Population-registry age-standardized incidence for adult-type diffuse glioma.
- population: United States (all primary brain/CNS tumors)
  measure_type: ANNUAL_INCIDENCE
  prevalence_class: BAND_1_9_PER_100000
  rate_per_100000: 6.89
  notes: >-
    CBTRUS (US, 2017-2021): gliomas accounted for 22.9% of all primary brain/CNS
    tumors; malignant brain/CNS tumor incidence 6.89 per 100,000.
  evidence:
  - reference: PMID:39371035
    reference_title: "CBTRUS Statistical Report: Primary Brain and Other Central Nervous System Tumors Diagnosed in the United States in 2017-2021."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Gliomas accounted for 22.9% of all tumors."
    explanation: CBTRUS population registry reports glioma share of primary CNS tumors and malignant CNS tumor incidence.
clinical_trials:
- name: NCT04164901
  phase: PHASE_III
  status: COMPLETED
  description: >-
    INDIGO: phase 3, randomized, double-blind, placebo-controlled trial of
    vorasidenib in residual or recurrent grade 2 IDH1/IDH2-mutant glioma after
    surgery only.
  target_phenotypes:
  - preferred_term: Seizure
    term:
      id: HP:0001250
      label: Seizure
  evidence:
  - reference: clinicaltrials:NCT04164901
    reference_title: "A Phase 3, Multicenter, Randomized, Double-blind, Placebo-Controlled Study of AG-881 in Subjects With Residual or Recurrent Grade 2 Glioma With an IDH1 or IDH2 Mutation"
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "comparing the efficacy of vorasidenib to placebo in participants with residual or recurrent Grade 2 glioma with an IDH1 or IDH2 mutation who have undergone surgery as their only treatment."
    explanation: Registered phase 3 trial establishing vorasidenib efficacy in grade 2 IDH-mutant glioma.
datasets:
- accession: geo:GSE339484
  title: RNA-seq profiling of 14 paired primary and recurrent glioma cases
  description: Glioma recurrence remains a major clinical challenge and is associated with poor patient outcomes. To characterize transcriptomic alterations associated with tumor recurrence, we performed bulk RNA sequencing on paired primary and recurrent glioma tissue specimens from 14 patients. According to the 2021 World Health Organization (WHO) Classification of Central Nervous System Tumors, glioblastoma is defined as IDH-wildtype (IDH-wt), CNS WHO grade 4. Based on these criteria, 11 paired cases were classified as glioblastoma (IDH-wt, grade 4), while three paired cases with IDH-mutant, grade 3 gliomas were included as a comparison group.
  organism:
    preferred_term: human
    term:
      id: NCBITaxon:9606
      label: Homo sapiens
  data_type: BULK_RNA_SEQ
  sample_count: 28
  publication: PMID:40658067
  notes: Identified by GEO DataSets index search for Glioma (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
- accession: geo:GSE327029
  title: KPNA3 drives temozolomide resistance in glioblastoma by upregulating MGMT and activating STAT3 to sustain glioma stem cells
  description: Glioblastoma (GBM) invariably develops resistance to temozolomide (TMZ), the frontline chemotherapeutic agent, leading to treatment failure. The molecular mechanisms underlying this resistance remain incompletely understood. Here, we identify karyopherin subunit alpha 3 (KPNA3) as a novel and critical driver of TMZ resistance. Through integrated bioinformatics analysis of temozolomide-resistant glioma cells (SF126R) and patient databases, we found KPNA3 expression is elevated in TMZ-resistant contexts and correlates with poor prognosis in TMZ-treated patients.
  organism:
    preferred_term: human
    term:
      id: NCBITaxon:9606
      label: Homo sapiens
  data_type: BULK_RNA_SEQ
  sample_count: 12
  publication: PMID:42295990
  notes: Identified by GEO DataSets index search for Glioma (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
- accession: geo:GSE298358
  title: Endothelins influences the proliferation-migration balance of IDH1-mutant glioma cells and promotes proneural to mesenchymal transition [RNAseq-Gb7-HUVEC]
  description: Adult diffuse gliomas are the deadliest brain tumours including IDH-wildtype glioblastomas of worst prognosis and diffuse low grade IDH-mutant astrocytomas and oligodendrogliomas. These glial tumours display distinct tumoral cell population defeating current therapies. Our group has unveiled the role of NOTCH signalling in glioblastoma cell plasticity and in the conversion of oligodendrocytic-like to astrocytic-like tumoral cells in IDH-mutant low-grade gliomas which escalate inevitably to higher grade malignant gliomas.
  organism:
    preferred_term: human
    term:
      id: NCBITaxon:9606
      label: Homo sapiens
  data_type: BULK_RNA_SEQ
  sample_count: 12
  publication: PMID:42026941
  notes: Identified by GEO DataSets index search for Glioma (scripts/discover_datasets.py); accession and metadata verified against NCBI E-utilities on 2026-08-01. Title, sample count, and organism are GEO's own values.
- accession: ega:EGAS00001000579
  title: Mutational analysis reveals the origin and therapy-driven evolution of recurrent glioma
  description: Tumor recurrence is a leading cause of cancer mortality. Therapies for recurrent disease may fail, at least in part, because the genomic alterations driving the growth of recurrences are distinct from those in the initial tumor. To explore this hypothesis, we sequenced the exomes of 23 initial low-grade gliomas and recurrent tumors resected from the same patients. In 43% of cases, at least half of the mutations in the initial tumor were undetected at recurrence, including driver mutations inTP53, ATRX, SMARCA4, and BRAF; this suggests that recurrent tumors are often seeded by cells derived from the initial tumor at a very early stage of their evolution.
  organism:
    preferred_term: human
    term:
      id: NCBITaxon:9606
      label: Homo sapiens
  data_type: WES
  publication: PMID:24336570
  notes: 'European Genome-phenome Archive study, matched because the disease is named in the study''s own title ("Glioma"); description-level mentions were not accepted. EGA study_type: Exome Sequencing. Controlled access -- data require a Data Access Agreement. EGA metadata retrieved 2026-08-01.'
- accession: ega:EGAS00001001258
  title: Search for new loci and low-frequency variants influencing glioma risk by exome-array analysis
  description: To identify protein altering variants (PAVs) for glioma we analysed Illumina HumanExome BeadChip exome array data on 1,882 glioma cases and 8,079 controls from three independent European populations. In addition to single variant tests we incorporated information on the predicted functional consequences of PAVs and analysed sets of genes with a higher likelihood of having a role in glioma on the basis of the profile of somatic mutations documented by large-scale sequencing initiatives. Globally there was a strong relationship between effect size and SNPs predicted to be damaging (P=2.29x10-49); however, these variants which are most likely to impact on risk, are rare (MAF<5%).
  organism:
    preferred_term: human
    term:
      id: NCBITaxon:9606
      label: Homo sapiens
  notes: 'European Genome-phenome Archive study, matched because the disease is named in the study''s own title ("Glioma"); description-level mentions were not accepted. EGA study_type: Other. Controlled access -- data require a Data Access Agreement. EGA metadata retrieved 2026-08-01.'
- accession: ega:EGAS00001001437
  title: Chromatin immunoprecipitation linked to next-generation whole genome sequencing (ChIP-Seq) for H3K36me3 in paediatric high grade glioma cell lines KKNS4 and SF188 with and without a G34V mutation in H3F3A
  description: Glioblastomas of children and young adults have a median survival of only 12-15months and are clinically and biologically distinct from histologically similar cancers in older adults1. They are defined by highly specific mutations in the gene encoding the histone H3.3 variant H3F3A2, occurring either at or close to key residues marked by methylation for regulation of transcription – K27 and G34. We performed chromatin immunoprecipitation linked to next-generation whole genome sequencing (ChIP-Seq) for H3K36me3 in order to test the hypothesis that, rather than total H3K36me3, the G34V mutation may instead result in differential binding of the trimethyl mark throughout the genome.
  organism:
    preferred_term: human
    term:
      id: NCBITaxon:9606
      label: Homo sapiens
  notes: 'European Genome-phenome Archive study, matched because the disease is named in the study''s own title ("Glioma"); description-level mentions were not accepted. EGA study_type: Other. Controlled access -- data require a Data Access Agreement. EGA metadata retrieved 2026-08-01.'
- accession: metabolomics_workbench:ST000199
  title: IDH1 and Glioma knockdown idh1 (part II)
  notes: Located via OmicsDI, which aggregates across omics repositories; this record comes from metabolomics_workbench. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Glioma"). Retrieved 2026-08-02.
- accession: metabolomics_workbench:ST001064
  title: Nude mice orthotopically implanted with human glioma cell lines
  organism:
    preferred_term: mouse
    term:
      id: NCBITaxon:10090
      label: Mus musculus
  data_type: METABOLOMICS
  notes: Located via OmicsDI, which aggregates across omics repositories; this record comes from metabolomics_workbench. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Glioma"). Retrieved 2026-08-02.
- accession: metabolomics_workbench:ST000820
  title: '2 hydroxyglutarate prodution in neurospheres from IDH1 mouse glioma model #2'
  organism:
    preferred_term: mouse
    term:
      id: NCBITaxon:10090
      label: Mus musculus
  data_type: METABOLOMICS
  notes: Located via OmicsDI, which aggregates across omics repositories; this record comes from metabolomics_workbench. Only repositories with no other discovery route in this project and with a working accession resolver are curated from OmicsDI -- GEO, ArrayExpress, PRIDE, MetaboLights and EGA hits are excluded as duplicates of dedicated passes. Matched because the disease is named in the dataset's own title ("Glioma"). Retrieved 2026-08-02.
references:
- reference: PMID:35869291
  title: "2021 WHO classification of tumours of the central nervous system: a review for the neuroradiologist."
  findings: []
- reference: PMID:36717507
  title: "Updates on the WHO diagnosis of IDH-mutant glioma."
  findings: []
- reference: PMID:36534419
  title: "Adult type diffuse gliomas in the new 2021 WHO Classification."
  findings: []
- reference: PMID:38927556
  title: "The 2021 World Health Organization Central Nervous System Tumor Classification: The Spectrum of Diffuse Gliomas."
  findings: []
- reference: PMID:39371035
  title: "CBTRUS Statistical Report: Primary Brain and Other Central Nervous System Tumors Diagnosed in the United States in 2017-2021."
  findings: []
- reference: PMID:38760442
  title: "IDH inhibition in gliomas: from preclinical models to clinical trials."
  findings: []
📚

References & Deep Research

References

6
2021 WHO classification of tumours of the central nervous system: a review for the neuroradiologist.
No top-level findings curated for this source.
Updates on the WHO diagnosis of IDH-mutant glioma.
No top-level findings curated for this source.
Adult type diffuse gliomas in the new 2021 WHO Classification.
No top-level findings curated for this source.
The 2021 World Health Organization Central Nervous System Tumor Classification: The Spectrum of Diffuse Gliomas.
No top-level findings curated for this source.
CBTRUS Statistical Report: Primary Brain and Other Central Nervous System Tumors Diagnosed in the United States in 2017-2021.
No top-level findings curated for this source.
IDH inhibition in gliomas: from preclinical models to clinical trials.
No top-level findings curated for this source.

Deep Research

1
Falcon
Disease Characteristics Research Template
Edison Scientific Literature 76 citations 2026-07-08T12:25:29.368734

Question: You are an expert researcher providing comprehensive, well-cited information.

Provide detailed information focusing on: 1. Key concepts and definitions with current understanding 2. Recent developments and latest research (prioritize 2023-2024 sources) 3. Current applications and real-world implementations 4. Expert opinions and analysis from authoritative sources 5. Relevant statistics and data from recent studies

Format as a comprehensive research report with proper citations. Include URLs and publication dates where available. Always prioritize recent, authoritative sources and provide specific citations for all major claims.

Disease Characteristics Research Template

Target Disease

  • Disease Name: Glioma
  • MONDO ID: (if available)
  • Category: Cancer

Research Objectives

Please provide a comprehensive research report on Glioma covering all of the disease characteristics listed below. This report will be used to populate a disease knowledge base entry. Be thorough and cite primary literature (PMID preferred) for all claims.

For each section, suggested databases/resources are listed. These are the first places you should search for information on each topic.


1. Disease Information

Search first: OMIM, Orphanet, ICD-10/ICD-11, MeSH, PubMed

  • What is the disease? Provide a concise overview.
  • What are the key identifiers? (OMIM, Orphanet, ICD-10/ICD-11, MeSH, Mondo)
  • What are the common synonyms and alternative names?
  • Is the information derived from individual patients (e.g., EHR) or aggregated disease-level resources?

2. Etiology

  • Disease Causal Factors: What are the primary causes? (genetic, environmental, infectious, mechanistic)
  • Risk Factors:

    Search first: PubMed, Cochrane Library, UpToDate, clinical guidelines, ClinVar, ClinGen, GWAS Catalog, PheGenI, CTD, CDC, WHO, epidemiological databases

  • Genetic risk factors (causal variants, susceptibility loci, modifier genes)
  • Environmental risk factors (toxins, lifestyle, occupational exposures, age, sex, family history)
  • Protective Factors:

    Search first: PubMed, Cochrane Library, clinical trial databases, GWAS Catalog, gnomAD, WHO, CDC, nutrition databases

  • Genetic protective factors (protective variants, modifier alleles)
  • Environmental protective factors (diet, lifestyle, exposures that reduce risk)
  • Gene-Environment Interactions: How do genetic and environmental factors interact to influence disease?

    Search first: CTD, PubMed, PheGenI, GxE databases

3. Phenotypes

Search first: HPO (Human Phenotype Ontology), OMIM, Orphanet, PubMed, clinicaltrials.gov, MedDRA, SNOMED CT, DECIPHER, LOINC

For each phenotype, provide: - Phenotype type: symptoms, clinical signs, physical manifestations, behavioral changes, or laboratory abnormalities

For symptoms/signs: HPO, OMIM, Orphanet, PubMed For behavioral changes: HPO, DSM, RDoC (Research Domain Criteria), PubMed For laboratory abnormalities: LOINC, SNOMED CT, LabTests Online, PubMed - Phenotype characteristics: Search first: OMIM, Orphanet, HPO, PubMed - Age of symptom onset (neonatal, childhood, adult-onset, late-onset) - Symptom severity (mild, moderate, severe, variable) - Symptom progression (stable, progressive, episodic, fluctuating) - Frequency among affected individuals (percentage or qualitative) - Quality of life impact: Effects on daily functioning and well-being (per-phenotype when possible) Search first: EQ-5D database, SF-36, WHO QOL databases, PubMed - Suggest HPO (Human Phenotype Ontology) terms for each phenotype

4. Genetic/Molecular Information

  • Causal Genes: Gene mutations or chromosomal abnormalities responsible for disease (gene symbols, OMIM IDs)

    Search first: OMIM, ClinVar, HGMD, Ensembl, NCBI Gene

  • Pathogenic Variants:
  • Affected genes (gene symbols, HGNC IDs) > Search first: OMIM, NCBI Gene, Ensembl, HGNC, UniProt, GeneCards
  • Variant classification (pathogenic, likely pathogenic, VUS per ACMG/AMP guidelines) > Search first: ClinVar, ClinGen, ACMG/AMP guidelines, VarSome
  • Variant type/class (missense, frameshift, nonsense, splice-site, structural)
  • Allele frequency in population databases > Search first: gnomAD, 1000 Genomes, ExAC, TOPMed, dbSNP
  • Somatic vs germline origin > Search first: COSMIC (somatic), ClinVar, ICGC, TCGA
  • Functional consequences (loss of function, gain of function, dominant negative)
  • Modifier Genes: Genes that modify disease severity or expression
  • Epigenetic Information: DNA methylation, histone modifications, chromatin changes affecting disease

    Search first: ENCODE, Roadmap Epigenomics, MethBase, DiseaseMeth

  • Chromosomal Abnormalities: Large-scale genetic changes (aneuploidy, translocations, inversions)

    Search first: DECIPHER, ClinVar, ECARUCA, UCSC Genome Browser

5. Environmental Information

  • Environmental Factors: Non-genetic contributing factors (toxins, radiation, pollution, occupational exposure)

    Search first: CTD (Comparative Toxicogenomics Database), TOXNET, PubMed, EPA databases

  • Lifestyle Factors: Behavioral factors (smoking, diet, exercise, alcohol consumption)

    Search first: CDC databases, WHO, PubMed, NHANES

  • Infectious Agents: If applicable, pathogens causing or triggering disease (bacteria, viruses, fungi, parasites)

    Search first: NCBI Taxonomy, ViPR, BV-BRC, MicrobeDB, GIDEON

6. Mechanism / Pathophysiology

  • Molecular Pathways: Specific signaling cascades or biochemical pathways involved (Wnt, MAPK, mTOR, PI3K-AKT, etc.)

    Search first: KEGG, Reactome, WikiPathways, PathBank, BioCyc

  • Cellular Processes: Cell-level mechanisms (apoptosis, autophagy, cell cycle dysregulation, inflammation, etc.)

    Search first: Gene Ontology (GO), Reactome, KEGG, PubMed

  • Protein Dysfunction: How protein structure or function is altered (misfolding, aggregation, loss of function, gain of function)

    Search first: UniProt, PDB (Protein Data Bank), InterPro, Pfam, AlphaFold

  • Metabolic Changes: Alterations in metabolic processes (energy metabolism, lipid metabolism, amino acid metabolism)

    Search first: KEGG, BioCyc, HMDB (Human Metabolome Database), BRENDA

  • Immune System Involvement: Role of immune response (autoimmunity, immunodeficiency, chronic inflammation)

    Search first: ImmPort, Immunome Database, IEDB, Gene Ontology

  • Tissue Damage Mechanisms: How tissues/ are injured (oxidative stress, ischemia, fibrosis, necrosis)

    Search first: PubMed, Gene Ontology, Reactome

  • Biochemical Abnormalities: Specific molecular defects (enzyme deficiencies, receptor dysfunction, ion channel defects)

    Search first: BRENDA, UniProt, KEGG, OMIM, PubMed

  • Epigenetic Changes: DNA methylation, histone modifications affecting gene expression in disease

    Search first: ENCODE, Roadmap Epigenomics, MethBase, DiseaseMeth

  • Molecular Profiling (if available):
  • Transcriptomics/gene expression changes > Search first: GEO (Gene Expression Omnibus), ArrayExpress, GTEx, Human Cell Atlas, SRA
  • Proteomics findings > Search first: PRIDE, ProteomeXchange, Human Protein Atlas, STRING, BioGRID
  • Metabolomics signatures > Search first: MetaboLights, Metabolomics Workbench, HMDB, METLIN
  • Lipidomics alterations > Search first: LIPID MAPS, SwissLipids, LipidHome, Metabolomics Workbench
  • Genomic structural features > Search first: UCSC Genome Browser, Ensembl, NCBI, dbVar, DGV
  • Advanced Technologies (if applicable):
  • Single-cell analysis findings (cell-type specific mechanisms, cellular heterogeneity) > Search first: Human Cell Atlas, Single Cell Portal, GEO, CELLxGENE
  • Spatial transcriptomics findings > Search first: GEO, Spatial Research, Vizgen, 10x Genomics data
  • Multi-omics integration results > Search first: TCGA, ICGC, cBioPortal, LinkedOmics, PubMed
  • Functional genomics screens (CRISPR, RNAi) > Search first: DepMap, GenomeRNAi, PubMed, BioGRID ORCS

For each mechanism, describe: - The causal chain from initial trigger to clinical manifestation - Which mechanisms are upstream vs downstream - What cell types and biological processes are involved - Suggest GO terms for biological processes and CL terms for cell types

7. Anatomical Structures Affected

  • Organ Level:
  • Primary organs directly affected
  • Secondary organ involvement (complications, secondary effects)
  • Body systems involved (cardiovascular, nervous, digestive, respiratory, endocrine, etc.)

    Search first: Uberon, FMA (Foundational Model of Anatomy), OMIM, HPO, ICD-11, MeSH, SNOMED CT

  • Tissue and Cell Level:
  • Specific tissue types affected (epithelial, connective, muscle, nervous)
  • Specific cell populations targeted (with Cell Ontology terms)

    Search first: Uberon, Human Protein Atlas, Cell Ontology, Human Cell Atlas, CellMarker, PanglaoDB

  • Subcellular Level:
  • Cellular compartments involved (mitochondria, nucleus, ER, lysosomes) (with GO Cellular Component terms)

    Search first: Gene Ontology (Cellular Component), UniProt, Human Protein Atlas

  • Localization:
  • Specific anatomical sites (with UBERON terms) > Search first: FMA, Uberon, NeuroNames (for brain), SNOMED CT
  • Lateralization (unilateral, bilateral, asymmetric) > Search first: HPO, clinical literature, imaging databases

8. Temporal Development

  • Onset:
  • Typical age of onset (congenital, pediatric, adult, geriatric)
  • Onset pattern (acute, subacute, chronic, insidious)

    Search first: OMIM, Orphanet, HPO, PubMed

  • Progression:
  • Disease stages (early, intermediate, advanced, end-stage) > Search first: Cancer Staging Manual (AJCC), WHO classifications, PubMed
  • Progression rate (rapid, slow, variable)
  • Disease course pattern (episodic, relapsing-remitting, progressive, stable)
  • Disease duration (self-limited, chronic lifelong)

    Search first: Disease registries, longitudinal cohort databases, natural history studies, PubMed, Orphanet, OMIM

  • Patterns:
  • Remission patterns (spontaneous, treatment-induced) > Search first: Clinical trial databases, disease registries, PubMed
  • Critical periods (time windows of vulnerability or opportunity for intervention) > Search first: PubMed, developmental biology databases, clinical guidelines

9. Inheritance and Population

  • Epidemiology:
  • Prevalence (cases per 100,000 at given time)
  • Incidence (new cases per 100,000 per year)

    Search first: Orphanet, CDC, WHO, GBD (Global Burden of Disease), national registries, SEER, disease registries

  • For Genetic Etiology:
  • Inheritance pattern (AD, AR, X-linked, mitochondrial, multifactorial, polygenic) > Search first: OMIM, Orphanet, ClinVar, GTR (Genetic Testing Registry)
  • Penetrance (complete, incomplete, age-dependent) > Search first: ClinVar, OMIM, PubMed, ClinGen
  • Expressivity (variable, consistent) > Search first: OMIM, ClinVar, PubMed
  • Genetic anticipation (increasing severity in successive generations) > Search first: OMIM, PubMed (especially for repeat expansion disorders)
  • Germline mosaicism > Search first: ClinVar, OMIM, genetic counseling literature, PubMed
  • Founder effects (population-specific mutations) > Search first: gnomAD, population genetics databases, PubMed
  • Consanguinity role > Search first: OMIM, population studies, genetic counseling resources
  • Carrier frequency > Search first: gnomAD, carrier screening databases, GeneReviews, GTR
  • Population Demographics:
  • Affected populations (ethnic or demographic groups with higher prevalence) > Search first: gnomAD, 1000 Genomes, PAGE Study, PubMed, population registries
  • Geographic distribution (endemic areas, regional variation) > Search first: WHO, CDC, GBD, Orphanet, geographic epidemiology databases
  • Geographic distribution of specific variants
  • Sex ratio (male:female) > Search first: Disease registries, OMIM, PubMed, epidemiological databases
  • Age distribution of affected individuals > Search first: CDC, disease registries, SEER, Orphanet

10. Diagnostics

  • Clinical Tests:
  • Laboratory tests (blood, urine, tissue chemistry, specific enzyme assays) > Search first: LOINC, LabTests Online, PubMed
  • Biomarkers (proteins, metabolites, genetic markers, circulating biomarkers) > Search first: FDA Biomarker List, BEST (Biomarkers, EndpointS, and other Tools), PubMed
  • Imaging studies (X-ray, CT, MRI, PET, ultrasound) > Search first: RadLex, DICOM, Radiopaedia, imaging databases
  • Functional tests (pulmonary function, cardiac stress tests) > Search first: LOINC, clinical guidelines, PubMed
  • Electrophysiology (EEG, EMG, ECG, nerve conduction studies) > Search first: LOINC, clinical neurophysiology databases, PubMed
  • Biopsy findings (histopathology, immunohistochemistry) > Search first: SNOMED CT, College of American Pathologists resources, PubMed
  • Pathology findings (microscopic examination) > Search first: SNOMED CT, Digital Pathology databases, PubMed
  • Genetic Testing:

    Search first: GTR (Genetic Testing Registry), GeneReviews, ClinGen

  • Overview of recommended genetic testing approach
  • Whole genome sequencing (WGS) utility > Search first: GTR, ClinVar, GEL (Genomics England), gnomAD
  • Whole exome sequencing (WES) utility > Search first: GTR, ClinVar, OMIM, GeneMatcher
  • Gene panels (which panels, which genes) > Search first: GTR, ClinVar, laboratory-specific databases
  • Single gene testing > Search first: GTR, ClinVar, OMIM, GeneReviews
  • Chromosomal microarray (CMA) > Search first: DECIPHER, ClinVar, dbVar, ECARUCA
  • Karyotyping > Search first: Chromosome Abnormality Database, ClinVar, cytogenetics resources
  • FISH > Search first: ClinVar, cytogenetics databases, PubMed
  • Mitochondrial DNA testing > Search first: MITOMAP, MSeqDR, ClinVar, GTR
  • Repeat expansion testing > Search first: GTR, ClinVar, repeat expansion databases, PubMed
  • Omics-Based Diagnostics (if applicable):
  • RNA sequencing / transcriptomics > Search first: GEO, ArrayExpress, GTEx, RNA-seq databases
  • Proteomics > Search first: PRIDE, ProteomeXchange, FDA Biomarker database
  • Metabolomics > Search first: MetaboLights, Metabolomics Workbench, HMDB
  • Epigenomics > Search first: GEO, ENCODE, Roadmap Epigenomics, MethBase
  • Liquid biopsy > Search first: COSMIC, ClinVar, liquid biopsy databases, PubMed
  • Clinical Criteria:
  • Standardized diagnostic criteria (DSM, ICD, society guidelines) > Search first: DSM-5, ICD-11, clinical society guidelines, UpToDate
  • Differential diagnosis (other conditions to rule out, with distinguishing features) > Search first: DynaMed, UpToDate, clinical decision support systems
  • Screening:
  • Screening methods for asymptomatic individuals (newborn screening, carrier screening, cascade screening) > Search first: ACMG recommendations, CDC newborn screening, GTR

11. Outcome/Prognosis

  • Survival and Mortality:
  • Survival rate (5-year, 10-year, overall) > Search first: SEER, cancer registries, disease-specific registries, PubMed
  • Life expectancy (with and without treatment if applicable) > Search first: Orphanet, disease registries, actuarial databases, PubMed
  • Mortality rate > Search first: CDC, WHO, GBD, national mortality databases
  • Disease-specific mortality (deaths directly attributable to disease) > Search first: Disease registries, CDC Wonder, GBD, PubMed
  • Morbidity and Function:
  • Morbidity (disease-related disability and health impacts) > Search first: GBD, WHO, disability databases, PubMed
  • Disability outcomes (long-term functional impairments) > Search first: ICF (International Classification of Functioning), disability registries
  • Quality of life measures (EQ-5D, SF-36, PROMIS, disease-specific tools) > Search first: EQ-5D database, SF-36, PROMIS, PubMed
  • Disease Course:
  • Complications (secondary problems: infections, organ failure, etc.) > Search first: ICD codes, disease registries, clinical databases, PubMed
  • Recovery potential (likelihood and extent of recovery, with vs without treatment) > Search first: Natural history studies, rehabilitation databases, PubMed
  • Prediction:
  • Prognostic factors (age, disease severity, biomarkers, treatment response) > Search first: Prognostic models databases, clinical calculators, PubMed
  • Prognostic biomarkers (molecular markers predicting disease course) > Search first: FDA Biomarker database, PubMed, cancer prognostic databases

12. Treatment

  • Pharmacotherapy:
  • Pharmacological treatments (drug names, drug classes, mechanisms of action) > Search first: DrugBank, RxNorm, ATC classification, DailyMed, FDA databases
  • Pharmacogenomics (how genetic variants affect drug metabolism, efficacy, toxicity) > Search first: PharmGKB, CPIC (Clinical Pharmacogenetics), FDA Table of PGx Biomarkers
  • Advanced Therapeutics:
  • Gene therapy (viral vectors, CRISPR, gene replacement, gene editing) > Search first: ClinicalTrials.gov, FDA gene therapy database, ASGCT resources
  • Cell therapy (stem cell transplant, CAR-T, cellular therapeutics) > Search first: ClinicalTrials.gov, FDA cell therapy database, FACT standards
  • RNA-based therapies (ASOs, siRNA, mRNA therapies) > Search first: ClinicalTrials.gov, FDA approvals, PubMed
  • Targeted therapies (treatments directed at specific molecular targets) > Search first: My Cancer Genome, OncoKB, ClinicalTrials.gov, FDA approvals
  • Immunotherapies (checkpoint inhibitors, monoclonal antibodies) > Search first: Cancer Immunotherapy Database, FDA approvals, ClinicalTrials.gov
  • Surgical and Interventional:
  • Surgical interventions (types of surgery, timing, outcomes) > Search first: CPT codes, surgical registries, clinical guidelines, PubMed
  • Supportive and Rehabilitative:
  • Supportive care (symptom management, pain control, nutrition) > Search first: Clinical guidelines, Cochrane Library, PubMed
  • Rehabilitation (physical therapy, occupational therapy, speech therapy) > Search first: Rehabilitation medicine databases, clinical guidelines, PubMed
  • Experimental:
  • Experimental treatments in clinical trials (with NCT identifiers if available) > Search first: ClinicalTrials.gov, EU Clinical Trials Register, WHO ICTRP
  • Treatment Outcomes:
  • Treatment response rates > Search first: Clinical trial databases, FDA reviews, systematic reviews, PubMed
  • Side effects and adverse events > Search first: FDA Adverse Event Reporting System (FAERS), MedWatch, PubMed
  • Treatment Strategy:
  • Treatment algorithms (clinical pathways, decision trees) > Search first: Clinical practice guidelines, NCCN Guidelines, UpToDate
  • Combination therapies > Search first: ClinicalTrials.gov, treatment guidelines, PubMed
  • Personalized medicine approaches (genotype-guided treatment) > Search first: My Cancer Genome, CIViC, PharmGKB, precision medicine databases

For each treatment, suggest MAXO (Medical Action Ontology) terms where applicable.

13. Prevention

  • Prevention Levels:
  • Primary prevention (preventing disease occurrence: vaccination, risk factor modification) > Search first: CDC, WHO, USPSTF recommendations, Cochrane Library
  • Secondary prevention (early detection and treatment: screening programs, early intervention) > Search first: USPSTF, CDC screening guidelines, WHO
  • Tertiary prevention (preventing complications in those with disease) > Search first: Clinical guidelines, disease management protocols, PubMed
  • Immunization: Vaccine strategies (if applicable)

    Search first: CDC vaccine schedules, WHO immunization, FDA vaccine database

  • Screening and Early Detection:
  • Screening programs (population-based: newborn screening, cancer screening) > Search first: CDC screening programs, USPSTF, cancer screening databases
  • Genetic screening (carrier screening, preimplantation genetic diagnosis, prenatal testing) > Search first: ACMG recommendations, ACOG guidelines, GTR
  • Risk stratification (identifying high-risk individuals for targeted prevention) > Search first: Risk prediction models, clinical calculators, PubMed
  • Behavioral Interventions: Lifestyle modifications to reduce risk

    Search first: CDC, WHO, behavioral intervention databases, Cochrane Library

  • Counseling: Genetic counseling (risk assessment, family planning guidance)

    Search first: NSGC resources, ACMG guidelines, GeneReviews

  • Public Health:
  • Public health interventions (sanitation, vector control, health education) > Search first: CDC, WHO, public health databases, PubMed
  • Environmental interventions (reducing environmental risk factors) > Search first: EPA databases, WHO environmental health, PubMed
  • Prophylaxis: Preventive medications or procedures

    Search first: Clinical guidelines, FDA approvals, PubMed

14. Other Species / Natural Disease

  • Taxonomy: Species affected (with NCBI Taxon identifiers)

    Search first: NCBI Taxonomy

  • Breed: Specific breeds affected (with VBO identifiers if applicable)

    Search first: VBO (Vertebrate Breed Ontology)

  • Gene: Orthologous genes in other species (with NCBI Gene IDs)

    Search first: NCBI Gene

  • Natural Disease:
  • Naturally occurring disease in other species (companion animals, wildlife) > Search first: OMIA (Online Mendelian Inheritance in Animals), VetCompass, PubMed
  • Veterinary relevance and importance in animal health > Search first: OMIA, veterinary databases, PubMed
  • Comparative Biology:
  • Comparative pathology (similarities and differences across species) > Search first: OMIA, comparative pathology databases, PubMed
  • Evolutionary conservation of disease mechanisms > Search first: HomoloGene, OrthoMCL, Alliance of Genome Resources
  • Transmission (if applicable):
  • Zoonotic potential > Search first: CDC zoonotic diseases, WHO zoonoses, GIDEON
  • Cross-species susceptibility > Search first: NCBI Taxonomy, veterinary databases, PubMed

15. Model Organisms

  • Model Types:
  • Model organism type (mammalian, invertebrate, cellular, in vitro) > Search first: Alliance of Genome Resources, model organism databases
  • Specific model systems (mouse, rat, zebrafish, Drosophila, C. elegans, yeast, cell lines, organoids, iPSCs) > Search first: MGI, RGD, ZFIN, FlyBase, WormBase, SGD, ATCC, Cellosaurus
  • Induced models (drug treatment, surgical intervention, environmental manipulation) > Search first: MGI, model organism databases, PubMed
  • Genetic Models:
  • Types available (knockout, knock-in, transgenic, conditional, humanized) > Search first: MGI, IMPC, KOMP, EuMMCR, IMSR
  • Model Characteristics:
  • Phenotype recapitulation (how well model reproduces human disease features) > Search first: Model organism databases, comparative studies, PubMed
  • Model limitations (aspects of human disease not captured) > Search first: Model organism databases, PubMed, review articles
  • Applications:
  • Research applications (what aspects of disease can be studied) > Search first: Model organism databases, PubMed
  • Resources:
  • Model databases > Search first: MGI, RGD, ZFIN, FlyBase, WormBase, IMSR, EMMA, MMRRC

Citation Requirements

  • Cite primary literature (PMID preferred) for all mechanistic and clinical claims
  • Prioritize recent reviews and landmark papers
  • Include direct quotes from abstracts where possible to support key statements
  • Distinguish evidence source types: human clinical, model organism, in vitro, computational

Output Format

Structure your response as a comprehensive narrative organized by the sections above. For each section, provide: - Factual content with specific details (numbers, percentages, gene names, variant nomenclature) - Ontology term suggestions (HPO, GO, CL, UBERON, CHEBI, MAXO, MONDO) where applicable - Evidence citations with PMIDs - Direct quotes from abstracts to support key claims - Clear indication when information is not available or not applicable for this disease

This report will be used to populate a disease knowledge base entry with: - Pathophysiology descriptions with causal chains - Gene/protein annotations (HGNC, GO terms) - Phenotype associations (HP terms) with frequencies - Cell type involvement (CL terms) - Anatomical locations (UBERON terms) - Chemical entities (CHEBI terms) - Treatment annotations (MAXO terms) - Evidence items with PMIDs and exact abstract quotes - Epidemiology, prognosis, diagnostic, and prevention information - Animal model descriptions with phenotype recapitulation details

Glioma (Cancer) — Disease Characteristics Research Report (WHO CNS5 / 2023–2024 prioritized)

1. Disease information

1.1 Overview / definition

Glioma is an umbrella term for primary central nervous system (CNS) tumors with glial or glial‑precursor lineage features; modern classification is based on integrated diagnosis combining histopathology with molecular alterations rather than morphology alone. (osborn2022the2021world pages 1-3, mcnamara20222021whoclassification pages 1-6)

In WHO CNS5 (5th edition, published 2021), adult-type diffuse gliomas were simplified into three principal, molecularly defined types: (i) astrocytoma, IDH-mutant; (ii) oligodendroglioma, IDH-mutant and 1p/19q-codeleted; (iii) glioblastoma, IDH-wildtype, with grading embedded within type (“within-type grading”). (reuss2023updatesonthe pages 1-2, mcnamara20222021whoclassification pages 6-9, osborn2022the2021world pages 1-3)

WHO CNS5 also emphasizes layered reporting, where the “integrated diagnosis” is presented as the top line, followed by histologic diagnosis, WHO grade, and the key molecular information supporting the classification. (osborn2022the2021world pages 1-3)

1.2 Key identifiers (available from retrieved sources)

  • WHO classification standard: WHO Classification of Tumors of the Central Nervous System, 5th edition (WHO CNS5), summarized in Neuro-Oncology (June 2021; DOI: https://doi.org/10.1093/neuonc/noab106). (reuss2023updatesonthe pages 1-2)
  • MONDO ID: Not retrieved from the tool evidence in this run (therefore not asserted).
  • ICD/MeSH/OMIM/Orphanet: Not retrieved from the tool evidence in this run (therefore not asserted).

1.3 Synonyms / alternative names

Key terminology changes affect how older literature maps onto WHO CNS5. Notably, “glioblastoma” is reserved for IDH‑wildtype diffuse astrocytic tumors; tumors historically called “IDH‑mutant glioblastoma” are now astrocytoma, IDH‑mutant, CNS WHO grade 4. (reuss2023updatesonthe pages 1-2, mcnamara20222021whoclassification pages 6-9)

Concept Common synonyms / legacy terms Key defining features (short) Primary authoritative source (URL + year)
Glioma (broad) Glial tumor; glial neoplasm; diffuse glioma (when infiltrative subset is intended) Broad umbrella for primary CNS tumors arising from glial or glial-precursor lineages; current WHO CNS5 diagnosis is integrated, combining histology with molecular features rather than morphology alone (osborn2022the2021world pages 1-3, mcnamara20222021whoclassification pages 1-6) Louis et al., The 2021 WHO Classification of Tumors of the Central Nervous System: a summary — https://doi.org/10.1093/neuonc/noab106 (2021)
Adult-type diffuse glioma Adult diffuse glioma; infiltrating adult glioma; diffuse astrocytic/oligodendroglial tumor WHO CNS5 simplifies adult diffuse gliomas into 3 molecularly defined types: astrocytoma, IDH-mutant; oligodendroglioma, IDH-mutant and 1p/19q-codeleted; glioblastoma, IDH-wildtype. Uses integrated/layered diagnosis and molecular grading (mcnamara20222021whoclassification pages 6-9, osborn2022the2021world pages 1-3) McNamara et al., 2021 WHO classification of tumours of the central nervous system: a review for the neuroradiologist — https://doi.org/10.1007/s00234-022-03008-6 (2022)
Astrocytoma, IDH-mutant Diffuse astrocytoma, IDH-mutant; anaplastic astrocytoma, IDH-mutant; legacy “IDH-mutant glioblastoma” now grade 4 astrocytoma Defined by IDH1 or IDH2 mutation with astrocytic lineage; typically supported by ATRX loss/mutation and TP53 alteration or absence of 1p/19q codeletion; graded CNS WHO 2–4, and CDKN2A/B homozygous deletion can justify grade 4 (reuss2023updatesonthe pages 1-2, mcnamara20222021whoclassification pages 6-9, antonelli2022adulttypediffuse pages 1-2) Reuss, Updates on the WHO diagnosis of IDH-mutant glioma — https://doi.org/10.1007/s11060-023-04250-5 (2023)
Oligodendroglioma, IDH-mutant and 1p/19q-codeleted Oligodendroglioma, IDH-mutant, 1p/19q-codeleted; anaplastic oligodendroglioma (legacy grade-based term) Diffusely infiltrating glioma defined by both IDH mutation and whole-arm 1p/19q codeletion; often associated with TERT promoter, CIC, and FUBP1 alterations; graded CNS WHO 2–3 (reuss2023updatesonthe pages 1-2, gue2024the2021world pages 19-21) Louis et al., The 2021 WHO Classification of Tumors of the Central Nervous System: a summary — https://doi.org/10.1093/neuonc/noab106 (2021)
Glioblastoma, IDH-wildtype GBM; primary glioblastoma; glioblastoma multiforme (older term) In WHO CNS5, the term “glioblastoma” is reserved for adult diffuse astrocytic glioma that is IDH-wildtype; diagnosis may be made by classic histology or by molecular features such as TERT promoter mutation, EGFR amplification, or combined whole chromosome 7 gain / whole chromosome 10 loss (+7/−10) even without necrosis or microvascular proliferation (mcnamara20222021whoclassification pages 6-9, osborn2022the2021world pages 1-3, mcnamara20222021whoclassification pages 1-6) Osborn et al., The 2021 World Health Organization Classification of Tumors of the Central Nervous System: What Neuroradiologists Need to Know — https://doi.org/10.3174/ajnr.45-12.s15 (2022)

Table: This table summarizes key WHO CNS5 glioma concepts, including current terminology, common legacy names, and the molecular features that define each entity. It is useful for normalizing disease names and aligning older literature with current integrated CNS tumor classification.

1.4 Evidence provenance

This report primarily synthesizes aggregated disease-level resources (WHO CNS5, CBTRUS population registry report) and cohort/registry studies, plus selected clinical guidelines and trials. (reuss2023updatesonthe pages 1-2, price2024cbtrusstatisticalreport pages 2-3, hainfellner2024glioblastomainthe pages 1-3)

2. Etiology

2.1 Causal factors (mechanistic / genetic)

WHO CNS5 frames adult diffuse glioma causation and taxonomy around canonical molecular alterations. For example: * Astrocytoma, IDH‑mutant is defined by IDH1/IDH2 mutation and is commonly associated with TP53 and ATRX alterations (astrocytic lineage) and generally more favorable outcomes than IDH‑wildtype tumors. (reuss2023updatesonthe pages 1-2) * Oligodendroglioma, IDH‑mutant and 1p/19q-codeleted is defined by the combination of IDH mutation and whole-arm 1p/19q codeletion (often alongside TERT promoter mutation, CIC, FUBP1), and tends to be the most favorable‑prognosis adult diffuse glioma category. (reuss2023updatesonthe pages 1-2, gue2024the2021world pages 19-21) * Glioblastoma, IDH‑wildtype can be diagnosed by classic histology or by glioblastoma‑defining molecular features (e.g., TERT promoter mutation, EGFR amplification, or combined +7/−10), even when histologic hallmarks are absent. (mcnamara20222021whoclassification pages 6-9, osborn2022the2021world pages 1-3)

2.2 Risk factors

2.2.1 Genetic predisposition (germline)

A 2023 single-institution paired tumor/normal sequencing series of 152 adult-type diffuse glioma patients reported pathogenic germline variants in 9.8% (15/152), with higher prevalence in glioblastoma, IDH‑wildtype (13.1%) than in IDH‑mutant astrocytoma (7.1%) or oligodendroglioma (3.8%). (mcdonald2023prevalenceofpathogenic pages 1-2, mcdonald2023prevalenceofpathogenic pages 5-7)

Most frequent germline pathogenic variants in that cohort were BRCA2, MUTYH, and CHEK2 (each 20% of pathogenic variants), with additional variants in BRCA1, ATM, NF1, MSH2, MSH3. (mcdonald2023prevalenceofpathogenic pages 1-2, mcdonald2023prevalenceofpathogenic pages 5-7)

Implementation gap: only 40% of patients with pathogenic germline variants were referred to genetics, despite potential implications for surveillance and family cascade testing. (mcdonald2023prevalenceofpathogenic pages 2-3, mcdonald2023prevalenceofpathogenic pages 5-7)

For pediatric CNS tumors (including glioma subtypes within the broader category), an AACR Cancer Predisposition Working Group update states that germline predisposition incidence “continues to grow” and that ~50% of patients may be the first in a family identified to have a predisposition; identification enables cascade testing and early tumor surveillance and can impact management. (hansford2024updateoncancer pages 1-2)

2.2.2 Environmental / lifestyle

No high-quality, specific environmental or protective factors were retrieved with tool evidence in this run; therefore, none are asserted.

2.3 Protective factors

No evidence was retrieved in this run for protective factors in glioma risk; therefore, none are asserted.

2.4 Gene–environment interactions

No gene–environment interaction evidence was retrieved in this run; therefore, none are asserted.

3. Phenotypes

3.1 Common clinical phenotypes (symptoms/signs) and QoL impact

Clinical guideline evidence emphasizes that neurologic symptoms can substantially impair quality of life in high-grade glioma. A SEOM-GEINO guideline notes common symptoms including seizures, cognitive deficits, drowsiness, dysphagia, headache, confusion, aphasia, motor deficits, fatigue, and dyspnea, varying with tumor size, location, and edema. (segura2023seomgeinoclinicalguidelines pages 2-4)

Supportive care priorities include management of brain edema (e.g., dexamethasone) and seizures (levetiracetam first-line monotherapy; prophylactic antiepileptic use generally not recommended), with attention to neurocognitive impairment as a frequent disabling complication. (segura2023seomgeinoclinicalguidelines pages 7-8, segura2023seomgeinoclinicalguidelines pages 8-9)

3.2 Suggested HPO terms (non-exhaustive; mapping guidance)

  • Seizures — HP:0001250
  • Headache — HP:0002315
  • Aphasia — HP:0002381
  • Cognitive impairment — HP:0100543
  • Fatigue — HP:0012378
  • Motor weakness — HP:0001324
  • Dysphagia — HP:0002015

(These HPO IDs are provided as standard ontology mappings; this run did not retrieve HPO source documents, so they are presented as ontology suggestions rather than evidence-derived claims.)

4. Genetic / molecular information

4.1 Core disease-defining genes and alterations (adult-type diffuse gliomas)

WHO CNS5/related reviews emphasize the following diagnostic anchors: * IDH1/IDH2 mutations define IDH-mutant astrocytoma and oligodendroglioma categories; TP53/ATRX alterations support astrocytic lineage, while 1p/19q codeletion supports oligodendroglial lineage. (reuss2023updatesonthe pages 1-2, mcnamara20222021whoclassification pages 6-9) * Glioblastoma, IDH-wildtype may be defined molecularly by TERT promoter mutation, EGFR amplification, +7/−10 copy-number pattern. (mcnamara20222021whoclassification pages 6-9)

4.2 Epigenetics and methylation profiling

DNA methylation profiling is increasingly important for CNS tumor diagnosis and subgrouping. A 2024 review characterizes methylation profiling as a key diagnostic tool, with classifier matching scores ≥0.9 in ~50–65% of samples and “diagnostic impact” in ~10–20% of cases. (bertero2024molecularneuropathologyan pages 3-4)

4.3 Multi-omics and functional genomics (recent developments)

In pediatric low-grade glioma diagnostics, a 2023 international registry analysis (LOGGIC) reported that adding RNA-seq increased driver detection from 75% to 97% (121/125), with 27/125 (22%) having drivers detected only by RNA-seq (22 actionable), supporting routine RNA-seq integration when standard approaches are unrevealing. (hardin2023loggiccorebioclinical pages 1-2, hardin2023loggiccorebioclinical pages 3-5)

5. Environmental information

No high-confidence environmental toxin/lifestyle/infectious causal evidence was retrieved in this run for glioma; therefore, no specific environmental claims are made.

6. Mechanism / pathophysiology

6.1 Core mechanistic concepts (WHO CNS5 perspective)

WHO CNS5 frames glioma biology around canonical molecular alterations and their downstream phenotypes. Key upstream-to-downstream relationships emphasized in the retrieved evidence include: * IDH mutation status as a primary biological divider associated with prognostic differences and correlated molecular programs (IDH-mutant generally more favorable than IDH-wildtype). (reuss2023updatesonthe pages 1-2) * Copy-number and oncogenic alterations (e.g., EGFR amplification, TERT promoter mutation, +7/−10) serving as glioblastoma-defining markers, reflecting aggressive tumor biology independent of morphology. (mcnamara20222021whoclassification pages 6-9)

6.2 Suggested GO biological process terms (examples; ontology suggestions)

  • Cell proliferation — GO:0008283
  • DNA repair — GO:0006281
  • Regulation of cell cycle — GO:0051726
  • Angiogenesis — GO:0001525

(Provided as ontology suggestions; GO source documents were not retrieved in this run.)

6.3 Suggested Cell Ontology (CL) terms (examples; ontology suggestions)

  • Astrocyte — CL:0000127
  • Oligodendrocyte — CL:0000128
  • Microglial cell — CL:0000129

7. Anatomical structures affected

Gliomas are CNS tumors affecting brain and spinal cord structures; adult diffuse gliomas are typically infiltrative within brain parenchyma. Adult diffuse glioma registry analyses report frequent localization in cerebral regions (“cerebrum” predominance in SEER-based analyses cited within registry context). (zhao2024emergingtrendsin pages 11-14)

Suggested UBERON terms (examples; ontology suggestions): * Brain — UBERON:0000955 * Cerebrum — UBERON:0001869

8. Temporal development

8.1 Onset

In a Belgian population registry cohort of adult-type diffuse glioma (2017–2019), median age at diagnosis was 64 years, consistent with adult-onset predominance for diffuse adult-type gliomas in population data. (pinson2024epidemiologyandsurvival pages 1-2)

8.2 Progression

Diffuse gliomas are infiltrative and often recur/progress despite therapy; WHO CNS5 emphasizes molecular classification and grading to better predict progression risk. (mcnamara20222021whoclassification pages 6-9, osborn2022the2021world pages 1-3)

9. Inheritance and population

9.1 Epidemiology (recent)

The CBTRUS Statistical Report (US; diagnosed 2017–2021; published Oct 2024) reports: * Gliomas accounted for 22.9% of all primary brain/CNS tumors. * Glioblastoma accounted for 14.0% of all tumors and 51.5% of malignant tumors. * Malignant brain/CNS tumor incidence: 6.89 per 100,000 overall; 8.06 per 100,000 in males vs 5.84 per 100,000 in females. * Malignant brain/CNS tumor mortality: 4.41 per 100,000, with 87,053 deaths during 2017–2021. * 5-year relative survival for malignant brain/CNS tumors overall: 35.7%. (price2024cbtrusstatisticalreport pages 2-3)

A Belgian national cancer registry analysis of adult-type diffuse gliomas (2017–2019; published Aug 2024) estimated an age-standardized incidence rate of 8.55 per 100,000 person-years for diffuse adult-type glioma and 6.72 per 100,000 person-years for grade 4 lesions. (pinson2024epidemiologyandsurvival pages 1-2)

Dataset / population Location / diagnosis years Key epidemiology statistics Key survival statistics Source
CBTRUS Statistical Report: all primary brain and other CNS tumors, with glioma-relevant subset United States; diagnosed 2017-2021 Gliomas accounted for 22.9% of all primary brain/CNS tumors. Glioblastoma accounted for 14.0% of all tumors and 51.5% of all malignant tumors. Overall malignant brain/CNS tumor incidence was 6.89 per 100,000; by sex, 8.06 per 100,000 in males vs 5.84 per 100,000 in females. Malignant brain/CNS tumor mortality was 4.41 per 100,000 (average annual mortality), with 87,053 deaths during 2017-2021. (price2024cbtrusstatisticalreport pages 2-3) 5-year relative survival for malignant brain/CNS tumors: 35.7%. (price2024cbtrusstatisticalreport pages 2-3) Price et al., Neuro-Oncology 2024, published Oct 2024. https://doi.org/10.1093/neuonc/noae145
Belgian population-based adult-type diffuse glioma registry Belgium; diagnosed 2017-2019 2,233 adult-type diffuse gliomas identified; 40.1% female; median age 64 years. Age-standardized incidence rate (ASR) for diffuse adult-type glioma: 8.55 per 100,000 person-years. ASR for grade 4 lesions: 6.72 per 100,000 person-years. (pinson2024epidemiologyandsurvival pages 1-2, pinson2024epidemiologyandsurvival pages 3-4) Median OS 9.3 months for IDH-wildtype glioblastoma; 25.9 months for grade 4 IDH-mutant astrocytoma. 3-year survival: IDH-mutant astrocytoma grade 2 86.0%, grade 3 75.7%; IDH-wildtype astrocytoma grade 2 31.6%, grade 3 5.7%; oligodendroglioma grade 2 93.4%, grade 3 64.2%; grade 4 lesions overall 6.5%. (pinson2024epidemiologyandsurvival pages 1-2, pinson2024epidemiologyandsurvival pages 3-4) Pinson et al., Neuro-Oncology 2024, published Aug 2024. https://doi.org/10.1093/neuonc/noad158
Belgian registry contextual comparison with prior US glioblastoma incidence estimate Belgium study citing US data; US comparator largely 2015-2019 Study notes CBTRUS-reported glioblastoma ASR in the US population of 3.26 per 100,000 person-years. (pinson2024epidemiologyandsurvival pages 4-6) Provides context that real-world glioblastoma outcomes remain poor relative to molecularly favorable diffuse glioma subtypes. (pinson2024epidemiologyandsurvival pages 4-6) Pinson et al., Neuro-Oncology 2024. https://doi.org/10.1093/neuonc/noad158

Table: This table compiles recent population-level glioma epidemiology and survival figures from the 2024 CBTRUS report and a 2024 Belgian molecular-era registry. It is useful for contrasting broad U.S. CNS tumor statistics with subtype-resolved real-world outcomes for adult-type diffuse gliomas.

9.2 Inheritance patterns

Most adult diffuse gliomas are sporadic, but a clinically meaningful minority show germline pathogenic variants; a 2023 cohort found ~10% with pathogenic germline variants (see Etiology). (mcdonald2023prevalenceofpathogenic pages 1-2)

10. Diagnostics

WHO CNS5-era diagnostic practice is integrated and multi-assay. Molecular markers may be detected via IHC surrogate assays, FISH for copy-number changes (including 1p/19q codeletion), and DNA/RNA next-generation sequencing; methylome profiling can classify tumors and infer copy-number alterations. (osborn2022the2021world pages 1-3)

Methylation profiling and NGS are described as core parts of the evolving molecular neuropathology toolbox, with methylation profiling “critical” for complex cases and for subgrouping heterogeneous entities; targeted sequencing is practical for routine diagnostics and may reveal targets for emerging therapies. (bertero2024molecularneuropathologyan pages 1-3, bertero2024molecularneuropathologyan pages 3-4)

Liquid biopsy remains investigational. A 2024 GBM liquid biopsy review notes analytes such as ctDNA, miRNA, CTCs, EVs/exosomes, proteins, but emphasizes major challenges including blood–brain barrier limitations, variable detection rates (ctDNA ~10–55%), small cohorts, and lack of standardized pre-analytical/analytical methods; no circulating biomarker is clinically validated for routine GBM management. (seyhan2024circulatingliquidbiopsy pages 48-49, seyhan2024circulatingliquidbiopsy pages 1-2)

For CSF cfDNA in glioma, a 2024 review reports NGS detection of tumor-specific mutations in 70% of glioma cases, 82.5% in brainstem glioma with targeted panels, and 97.3% concordance when primary tumor alterations were present—highlighting potential as an adjunct in hard-to-biopsy contexts. (otsuji2024liquidbiopsyfor pages 12-14)

Modality What it detects Typical use case Key limitations Recent evidence/examples with year + URL
MRI (standard structural MRI; advanced MRI adjuncts) Tumor location, size, contrast enhancement, edema, mass effect; supports response/progression assessment First-line detection, surgical planning, longitudinal monitoring, distinguishing enhancing vs non-enhancing disease Limited specificity for molecular subtype; may not reliably distinguish progression from treatment effect/pseudoprogression Standard imaging remains central in WHO-era glioma workup; radiologists integrate imaging with molecular classification (2022, https://doi.org/10.3174/ajnr.45-12.s15) (osborn2022the2021world pages 1-3)
Histopathology + immunohistochemistry (IHC) Morphology plus surrogate protein markers such as IDH1 R132H, ATRX loss, p53 overexpression, H3K27M, BRAF V600E Core tissue diagnosis after biopsy/resection; rapid subtype orientation and grading support Sampling bias, interobserver variability, limited sensitivity for non-canonical mutations/fusions; cannot alone resolve all integrated diagnoses WHO CNS5 layered diagnosis still relies on histology/IHC alongside molecular data (2022, https://doi.org/10.3174/ajnr.45-12.s15) (osborn2022the2021world pages 1-3)
FISH 1p/19q codeletion, EGFR amplification, CDKN2A/B deletion and other copy-number events Confirm oligodendroglioma-defining 1p/19q status; support glioblastoma-defining alterations when needed Target-limited assay; may miss genome-wide context or complex chromosomal architecture FISH remains part of the molecular toolbox for diffuse glioma classification in WHO CNS5 practice (2022, https://doi.org/10.3174/ajnr.45-12.s15) (osborn2022the2021world pages 1-3)
DNA NGS panels SNVs/indels in genes such as IDH1/2, TP53, ATRX, TERT promoter, H3 genes; some copy-number calls depending on panel Practical routine molecular workup for adult and pediatric gliomas; diagnosis, prognostication, and actionable target finding Panel content constrains discovery; may miss fusions/structural events; lower utility for epigenetic subgrouping Targeted DNA sequencing is described as the most practical routine approach and can detect diagnostically relevant alterations in >50% of CNS tumors (2024, https://doi.org/10.1007/s00428-023-03632-4) (bertero2024molecularneuropathologyan pages 3-4, bertero2024molecularneuropathologyan pages 1-3)
RNA-seq Gene fusions, splice variants, expressed rearrangements; can reveal hidden drivers such as FGFR1 ITD and rare kinase fusions Especially valuable in pediatric low-grade glioma and fusion-driven tumors when panel/IHC are unrevealing Requires high-quality nucleic acid/bioinformatics; less commonly informative in adult diffuse glioma; tissue handling constraints In LOGGIC pLGG, adding RNA-seq raised driver detection from 75% to 97%; 27/125 cases had drivers found only by RNA-seq and 22 were actionable (2023, https://doi.org/10.1093/neuonc/noad078) (hardin2023loggiccorebioclinical pages 3-5, hardin2023loggiccorebioclinical pages 1-2)
DNA methylation profiling (classifier) Tumor-class methylome signature plus genome-wide copy-number profile; can refine subtype, resolve ambiguous cases, and support grading/class assignment Difficult/ambiguous cases, novel entities, subclassification, integrated diagnosis under WHO CNS5 Not all samples achieve high-confidence match; specialized platforms/classifiers required; interpretation expertise needed Described as a critical/most impactful diagnostic tool; match scores ≥0.9 in ~50-65% of samples with diagnostic impact in ~10-20% of cases (2024, https://doi.org/10.1007/s00428-023-03632-4); DKFZ classifier v12.5 added >10 novel methylation classes (2023, https://doi.org/10.1007/s10014-022-00446-1) (bertero2024molecularneuropathologyan pages 3-4, bertero2024molecularneuropathologyan pages 1-3, komori2023updateofthe pages 1-2)
CSF ctDNA liquid biopsy Tumor-derived mutations/copy-number alterations in CSF cfDNA; can reflect IDH1, TERT, TP53, PTEN and other glioma alterations Adjunct when biopsy is risky, deep/brainstem lesions, postoperative monitoring, molecular follow-up Blood-brain barrier limits blood sensitivity; CSF acquisition is invasive; no standardization; not a replacement for tissue diagnosis Reviews emphasize ctDNA/CTCs/miRNA/EVs as promising but limited by BBB and lack of standardized workflows (2024, https://doi.org/10.3390/ijms25147974; 2024, https://doi.org/10.3390/cancers16051009). Reported CSF cfDNA mutation detection includes 70% in gliomas, 82.5% in brainstem glioma, and 97.3% concordance when tumor alterations are present (2024, https://doi.org/10.3390/cancers16051009) (seyhan2024circulatingliquidbiopsy pages 48-49, seyhan2024circulatingliquidbiopsy pages 49-51, seyhan2024circulatingliquidbiopsy pages 1-2, otsuji2024liquidbiopsyfor pages 12-14)

Table: This table summarizes the main current diagnostic modalities used in glioma care, what each modality detects, where it is most useful, and key limitations. It emphasizes the shift toward integrated molecular diagnosis in WHO CNS5, including methylation profiling, RNA-seq, and CSF liquid biopsy.

11. Outcome / prognosis

11.1 High-grade glioma / glioblastoma prognosis

A 2023 high-grade glioma guideline states glioblastoma has a grim prognosis with median overall survival ~15 months and 5-year survival 5–10%. (segura2023seomgeinoclinicalguidelines pages 1-2)

In real-world Austrian population data (2014–2018; published Aug 2024), median OS for 1,420 glioblastoma patients was 11.6 months overall and 16.1 months among patients ≤65 years receiving postoperative standard-of-care therapy; ≥5-year survival occurred in 4.9% of those with ≥5-year follow-up. (hainfellner2024glioblastomainthe pages 1-3)

11.2 Prognostic stratification by molecular subtype (real-world molecular era)

A Belgian registry study (2017–2019) showed marked survival differences by molecular subtype: median OS 9.3 months for IDH‑wildtype glioblastoma vs 25.9 months for grade 4 IDH‑mutant astrocytoma; 3‑year survival for IDH‑mutant astrocytoma was 86.0% (grade 2) and 75.7% (grade 3). (pinson2024epidemiologyandsurvival pages 1-2)

12. Treatment

12.1 Standard of care (adult high-grade glioma / glioblastoma)

Guidelines emphasize multimodal treatment with maximal safe resection, radiotherapy, and temozolomide-based chemotherapy (Stupp regimen). (segura2023seomgeinoclinicalguidelines pages 4-5, segura2023seomgeinoclinicalguidelines pages 2-4)

12.2 Device-based therapy: Tumor Treating Fields (TTFields)

A 2023 systematic review/meta-analysis of real-world TTFields studies found improved OS when TTFields was added to standard chemoradiotherapy (pooled HR 0.63, 95% CI 0.53–0.75), with pooled median OS 22.6 months (TTFields) vs 17.4 months (no TTFields). (ballo2023associationoftumor pages 1-2)

A 2024 global post-marketing safety surveillance analysis (>25,000 treated CNS malignancy patients) reported most common TTFields-related adverse events were localized scalp reactions: beneath-array skin reaction 43%, tingling 14%, warmth 12%, with no TTFields-related systemic adverse events reported. (mrugala2024globalpost‑marketingsafety pages 1-2)

12.3 Precision therapy for IDH-mutant grade 2 glioma: vorasidenib (INDIGO)

The phase 3 INDIGO trial (NEJM, Aug 2023; DOI: https://doi.org/10.1056/NEJMoa2304194) enrolled 331 patients with residual/recurrent grade 2 IDH1/2-mutant glioma after surgery only. Vorasidenib significantly improved median imaging-based PFS (27.7 vs 11.1 months, HR 0.39) and delayed time to next intervention (HR 0.26). (mellinghoff2023vorasidenibinidh1 pages 1-3)

Safety: grade ≥3 alanine aminotransferase elevation occurred in ~9.6–10% of vorasidenib patients vs 0% placebo in trial reporting. (mellinghoff2023vorasidenibinidh1 pages 1-3, ruda2024idhinhibitionin pages 6-7)

ClinicalTrials.gov identifier: NCT04164901. (mellinghoff2023vorasidenibinidh1 pages 1-3)

12.4 Supportive care

Guidelines highlight dexamethasone for edema (preferred dose range 4–16 mg/day) and seizure management with levetiracetam as first-line monotherapy for patients with seizures. (segura2023seomgeinoclinicalguidelines pages 7-8)

Intervention Indication/subtype Evidence type Key efficacy outcomes Key safety/QoL points Source with URL and year MAXO term suggestion
Stupp regimen (maximal safe resection + radiotherapy + concomitant/adjuvant temozolomide) Newly diagnosed glioblastoma / adult high-grade glioma Guideline + real-world registry Standard of care; guideline cites median OS ~15 months and 5-year survival 5-10% for GBM; in Austrian real-world cohort, median OS 11.6 months overall, 16.1 months in patients ≤65 years receiving postoperative standard-of-care therapy (segura2023seomgeinoclinicalguidelines pages 1-2, segura2023seomgeinoclinicalguidelines pages 4-5, hainfellner2024glioblastomainthe pages 1-3) Extent of resection is prognostic; symptoms affecting QoL include seizures, cognitive deficits, headache, aphasia, motor deficits, fatigue; postoperative therapy started at median 31 days in Austrian practice (segura2023seomgeinoclinicalguidelines pages 2-4, hainfellner2024glioblastomainthe pages 1-3) SEOM-GEINO guideline 2023: https://doi.org/10.1007/s12094-023-03245-y; Austrian registry 2024: https://doi.org/10.1007/s11060-024-04808-x (segura2023seomgeinoclinicalguidelines pages 2-4, hainfellner2024glioblastomainthe pages 1-3, segura2023seomgeinoclinicalguidelines pages 4-5) MAXO: surgical resection; radiotherapy; temozolomide treatment; combined chemoradiotherapy
Tumor Treating Fields (TTFields) + standard of care / maintenance temozolomide Newly diagnosed glioblastoma after chemoradiation; considered when available Systematic review/meta-analysis + post-marketing surveillance + post-approval real-world study Meta-analysis: OS HR 0.63 (95% CI 0.53-0.75) vs SOC alone; pooled median OS 22.6 vs 17.4 months; 2-year OS 46.8% vs 32.3%; higher adherence (≥75%) associated with longer survival (ballo2023associationoftumor pages 1-2, ballo2023associationoftumor pages 5-6) Most common treatment-related AEs: beneath-array skin reactions 43%, tingling 14%, warmth 12%; no TTFields-related systemic AEs in >25,000-patient surveillance; Japanese post-approval study found local skin reactions in 60%, mostly mild-moderate (mrugala2024globalpost‑marketingsafety pages 1-2, nishikawa2023safetyandefficacy pages 1-2) Meta-analysis 2023: https://doi.org/10.1007/s11060-023-04348-w; global surveillance 2024: https://doi.org/10.1007/s11060-024-04682-7; Japanese post-approval 2023: https://doi.org/10.1093/jjco/hyad001 (mrugala2024globalpost‑marketingsafety pages 1-2, ballo2023associationoftumor pages 1-2, nishikawa2023safetyandefficacy pages 1-2, ballo2023associationoftumor pages 5-6) MAXO: tumor treating fields therapy; adjuvant device-based therapy
Vorasidenib Residual or recurrent grade 2 IDH1/2-mutant astrocytoma or oligodendroglioma after surgery only Phase 3 randomized trial (INDIGO) + approval summary INDIGO: median imaging-based PFS 27.7 vs 11.1 months; HR for progression/death 0.39; time to next intervention HR 0.26; 18-month freedom from next intervention 85.6% vs 47.4% (mellinghoff2023vorasidenibinidh1 pages 1-3, lamb2024vorasidenibfirstapproval pages 4-5) Grade ≥3 AEs more frequent with vorasidenib; grade ≥3 ALT elevation 9.6-10%; common AEs include elevated liver enzymes, fatigue, headache, diarrhea, nausea, dizziness; HRQoL reportedly maintained over ~13 months (mellinghoff2023vorasidenibinidh1 pages 1-3, lamb2024vorasidenibfirstapproval pages 4-5, ruda2024idhinhibitionin pages 6-7) NEJM 2023: https://doi.org/10.1056/NEJMoa2304194; approval review 2024: https://doi.org/10.1007/s40265-024-02097-2 (mellinghoff2023vorasidenibinidh1 pages 1-3, lamb2024vorasidenibfirstapproval pages 4-5, ruda2024idhinhibitionin pages 6-7) MAXO: IDH inhibitor therapy; targeted small-molecule therapy
Supportive care: dexamethasone Symptomatic brain edema/increased intracranial pressure in high-grade glioma Guideline/expert consensus Improves mass-effect/edema-related symptoms; integral adjunct to oncologic therapy rather than disease-modifying treatment (segura2023seomgeinoclinicalguidelines pages 7-8) Preferred dose range 4-16 mg/day; used to relieve edema-related neurologic symptoms and maintain function/QoL (segura2023seomgeinoclinicalguidelines pages 7-8) SEOM-GEINO guideline 2023: https://doi.org/10.1007/s12094-023-03245-y (segura2023seomgeinoclinicalguidelines pages 7-8) MAXO: corticosteroid therapy; cerebral edema management
Supportive care: levetiracetam Seizure management in glioma/high-grade glioma Guideline/expert consensus Recommended as first-line antiepileptic monotherapy for patients with seizures; prophylactic AED use is not generally recommended (segura2023seomgeinoclinicalguidelines pages 7-8) Supports seizure control and QoL; neurocognitive impairment is common and AED-related cognitive effects may require dose adjustment or agent substitution (segura2023seomgeinoclinicalguidelines pages 7-8, segura2023seomgeinoclinicalguidelines pages 8-9) SEOM-GEINO guideline 2023: https://doi.org/10.1007/s12094-023-03245-y (segura2023seomgeinoclinicalguidelines pages 7-8, segura2023seomgeinoclinicalguidelines pages 8-9) MAXO: anticonvulsant treatment; seizure management

Table: This table summarizes current glioma treatments and real-world implementation evidence, including standard chemoradiotherapy, TTFields, vorasidenib, and supportive care. It highlights efficacy, safety, and ontology-ready MAXO action terms for knowledge base use.

13. Prevention

No population screening or primary prevention strategies were retrieved with tool evidence in this run. Prevention is therefore largely limited to: * Tertiary prevention/supportive care to reduce complications (edema, seizures, thrombosis, neurocognitive decline) in diagnosed patients. (segura2023seomgeinoclinicalguidelines pages 7-8) * Genetic counseling/surveillance for individuals with cancer predisposition syndromes, with pediatric surveillance guidance emphasizing early tumor surveillance and cascade testing. (hansford2024updateoncancer pages 1-2)

14. Other species / natural disease

Naturally occurring canine gliomas are used in comparative oncology. An in vitro comparative study tested human and canine glioma cell lines and noted similarities supporting canine glioma as a surrogate model; cannabidiol showed cytotoxicity in the ~4.9–8.2 μg/ml range, with mitochondrial dysfunction (reduced oxygen consumption, swollen mitochondria) contributing to apoptosis. (gross2021cannabidiolinducesapoptosis pages 1-2)

15. Model organisms

This run retrieved limited explicit model-organism methodology evidence beyond the comparative canine in vitro model above; thus, additional statements about specific GEMMs/PDX/organoid resources are not asserted.

Expert opinions / authoritative analyses (selected)

  • WHO CNS5 expert summaries emphasize that molecular diagnostics are central to classification while histology and immunohistochemistry remain essential, and that integrated diagnoses and layered reporting improve reproducibility and clinical relevance. (reuss2023updatesonthe pages 1-2, osborn2022the2021world pages 1-3)
  • Molecular neuropathology reviews in 2024 frame DNA methylation profiling and DNA/RNA NGS as an “essential and evolving toolbox” for diagnosis and management, enabling tumor subgrouping and supporting targeted therapy selection. (bertero2024molecularneuropathologyan pages 1-3)

Visual evidence note

Attempts were made to retrieve a WHO CNS5 classification figure/table and a CBTRUS survival table using the image retrieval tool, but the tool failed to fetch images from available text chunks in this run; therefore, no figure/table image citations are provided.

References

  1. (osborn2022the2021world pages 1-3): A.G. Osborn, D.N. Louis, T.Y. Poussaint, L.L. Linscott, and K.L. Salzman. The 2021 world health organization classification of tumors of the central nervous system: what neuroradiologists need to know. American Journal of Neuroradiology, 45:S15-S24, Jun 2022. URL: https://doi.org/10.3174/ajnr.45-12.s15, doi:10.3174/ajnr.45-12.s15. This article has 265 citations and is from a peer-reviewed journal.

  2. (mcnamara20222021whoclassification pages 1-6): Cillian McNamara, Kshitij Mankad, Stefanie Thust, Luke Dixon, Clara Limback-Stanic, Felice D’Arco, Thomas S. Jacques, and Ulrike Löbel. 2021 who classification of tumours of the central nervous system: a review for the neuroradiologist. Neuroradiology, 64:1919-1950, Jul 2022. URL: https://doi.org/10.1007/s00234-022-03008-6, doi:10.1007/s00234-022-03008-6. This article has 123 citations and is from a peer-reviewed journal.

  3. (reuss2023updatesonthe pages 1-2): David.E. Reuss. Updates on the who diagnosis of idh-mutant glioma. Journal of Neuro-Oncology, 162:461-469, Jan 2023. URL: https://doi.org/10.1007/s11060-023-04250-5, doi:10.1007/s11060-023-04250-5. This article has 80 citations and is from a peer-reviewed journal.

  4. (mcnamara20222021whoclassification pages 6-9): Cillian McNamara, Kshitij Mankad, Stefanie Thust, Luke Dixon, Clara Limback-Stanic, Felice D’Arco, Thomas S. Jacques, and Ulrike Löbel. 2021 who classification of tumours of the central nervous system: a review for the neuroradiologist. Neuroradiology, 64:1919-1950, Jul 2022. URL: https://doi.org/10.1007/s00234-022-03008-6, doi:10.1007/s00234-022-03008-6. This article has 123 citations and is from a peer-reviewed journal.

  5. (antonelli2022adulttypediffuse pages 1-2): Manila Antonelli and Pietro Luigi Poliani. Adult type diffuse gliomas in the new 2021 who classification. Pathologica, 114:397-409, Dec 2022. URL: https://doi.org/10.32074/1591-951x-823, doi:10.32074/1591-951x-823. This article has 80 citations.

  6. (gue2024the2021world pages 19-21): Racine Gue and Dhairya A. Lakhani. The 2021 world health organization central nervous system tumor classification: the spectrum of diffuse gliomas. Biomedicines, 12:1349, Jun 2024. URL: https://doi.org/10.3390/biomedicines12061349, doi:10.3390/biomedicines12061349. This article has 21 citations.

  7. (price2024cbtrusstatisticalreport pages 2-3): Mackenzie Price, Christine Ballard, Julia Benedetti, Corey Neff, Gino Cioffi, Kristin A Waite, Carol Kruchko, Jill S Barnholtz-Sloan, and Quinn T Ostrom. Cbtrus statistical report: primary brain and other central nervous system tumors diagnosed in the united states in 2017-2021. Neuro-oncology, 26 Supplement_6:vi1-vi85, Oct 2024. URL: https://doi.org/10.1093/neuonc/noae145, doi:10.1093/neuonc/noae145. This article has 587 citations and is from a domain leading peer-reviewed journal.

  8. (hainfellner2024glioblastomainthe pages 1-3): Andreas Hainfellner, Martin Borkovec, Lukas Seebrecht, Magdalena Neuhauser, Thomas Roetzer-Pejrimovsky, Lisa Greutter, Birgit Surböck, Andrea Hager-Seifert, Doris Gorka-vom Hof, Tadeja Urbanic-Purkart, Martin Stultschnig, Clemens Cijan, Franz Würtz, Bernadette Calabek-Wohinz, Josef Pichler, Isolde Höllmüller, Annette Leibetseder, Serge Weis, Waltraud Kleindienst, Michael Seiberl, Lara Bieler, Constantin Hecker, Christoph Schwartz, Sarah Iglseder, Johanna Heugenhauser, Martha Nowosielski, Claudius Thomé, Patrizia Moser, Markus Hoffermann, Karin Loibnegger, Karin Dieckmann, Matthias Tomschik, Georg Widhalm, Karl Rössler, Christine Marosi, Adelheid Wöhrer, Johannes A. Hainfellner, and Stefan Oberndorfer. Glioblastoma in the real-world setting: patterns of care and outcome in the austrian population. Journal of Neuro-Oncology, 170:407-418, Aug 2024. URL: https://doi.org/10.1007/s11060-024-04808-x, doi:10.1007/s11060-024-04808-x. This article has 7 citations and is from a peer-reviewed journal.

  9. (mcdonald2023prevalenceofpathogenic pages 1-2): Malcolm F McDonald, Lyndsey L Prather, Cassandra R Helfer, Ethan B Ludmir, Alfredo E Echeverria, Shlomit Yust-Katz, Akash J Patel, Benjamin Deneen, Ganesh Rao, Ali Jalali, Shweta U Dhar, Chris I Amos, and Jacob J Mandel. Prevalence of pathogenic germline variants in adult-type diffuse glioma. Neuro-oncology practice, 10 5:482-490, Jun 2023. URL: https://doi.org/10.1093/nop/npad033, doi:10.1093/nop/npad033. This article has 9 citations and is from a peer-reviewed journal.

  10. (mcdonald2023prevalenceofpathogenic pages 5-7): Malcolm F McDonald, Lyndsey L Prather, Cassandra R Helfer, Ethan B Ludmir, Alfredo E Echeverria, Shlomit Yust-Katz, Akash J Patel, Benjamin Deneen, Ganesh Rao, Ali Jalali, Shweta U Dhar, Chris I Amos, and Jacob J Mandel. Prevalence of pathogenic germline variants in adult-type diffuse glioma. Neuro-oncology practice, 10 5:482-490, Jun 2023. URL: https://doi.org/10.1093/nop/npad033, doi:10.1093/nop/npad033. This article has 9 citations and is from a peer-reviewed journal.

  11. (mcdonald2023prevalenceofpathogenic pages 2-3): Malcolm F McDonald, Lyndsey L Prather, Cassandra R Helfer, Ethan B Ludmir, Alfredo E Echeverria, Shlomit Yust-Katz, Akash J Patel, Benjamin Deneen, Ganesh Rao, Ali Jalali, Shweta U Dhar, Chris I Amos, and Jacob J Mandel. Prevalence of pathogenic germline variants in adult-type diffuse glioma. Neuro-oncology practice, 10 5:482-490, Jun 2023. URL: https://doi.org/10.1093/nop/npad033, doi:10.1093/nop/npad033. This article has 9 citations and is from a peer-reviewed journal.

  12. (hansford2024updateoncancer pages 1-2): Jordan R. Hansford, Anirban Das, Rose B. McGee, Yoshiko Nakano, Jack Brzezinski, Sarah R. Scollon, Surya P. Rednam, Jaclyn Schienda, Orli Michaeli, Sun Young Kim, Mary-Louise C. Greer, Rosanna Weksberg, Douglas R. Stewart, William D. Foulkes, Uri Tabori, Kristian W. Pajtler, Stefan M. Pfister, Garrett M. Brodeur, and Junne Kamihara. Update on cancer predisposition syndromes and surveillance guidelines for childhood brain tumors. Clinical cancer research : an official journal of the American Association for Cancer Research, 30:2342-2350, Apr 2024. URL: https://doi.org/10.1158/1078-0432.ccr-23-4033, doi:10.1158/1078-0432.ccr-23-4033. This article has 62 citations.

  13. (segura2023seomgeinoclinicalguidelines pages 2-4): Pedro Pérez Segura, Noelia Vilariño Quintela, María Martínez García, Sonia del Barco Berrón, Regina Gironés Sarrió, Jesús García Gómez, Almudena García Castaño, Luis Miguel Navarro Martín, Oscar Gallego Rubio, and Estela Pineda Losada. Seom-geino clinical guidelines for high-grade gliomas of adulthood (2022). Clinical & Translational Oncology, 25:2634-2646, Aug 2023. URL: https://doi.org/10.1007/s12094-023-03245-y, doi:10.1007/s12094-023-03245-y. This article has 46 citations and is from a peer-reviewed journal.

  14. (segura2023seomgeinoclinicalguidelines pages 7-8): Pedro Pérez Segura, Noelia Vilariño Quintela, María Martínez García, Sonia del Barco Berrón, Regina Gironés Sarrió, Jesús García Gómez, Almudena García Castaño, Luis Miguel Navarro Martín, Oscar Gallego Rubio, and Estela Pineda Losada. Seom-geino clinical guidelines for high-grade gliomas of adulthood (2022). Clinical & Translational Oncology, 25:2634-2646, Aug 2023. URL: https://doi.org/10.1007/s12094-023-03245-y, doi:10.1007/s12094-023-03245-y. This article has 46 citations and is from a peer-reviewed journal.

  15. (segura2023seomgeinoclinicalguidelines pages 8-9): Pedro Pérez Segura, Noelia Vilariño Quintela, María Martínez García, Sonia del Barco Berrón, Regina Gironés Sarrió, Jesús García Gómez, Almudena García Castaño, Luis Miguel Navarro Martín, Oscar Gallego Rubio, and Estela Pineda Losada. Seom-geino clinical guidelines for high-grade gliomas of adulthood (2022). Clinical & Translational Oncology, 25:2634-2646, Aug 2023. URL: https://doi.org/10.1007/s12094-023-03245-y, doi:10.1007/s12094-023-03245-y. This article has 46 citations and is from a peer-reviewed journal.

  16. (bertero2024molecularneuropathologyan pages 3-4): Luca Bertero, Luca Mangherini, Alessia Andrea Ricci, Paola Cassoni, and Felix Sahm. Molecular neuropathology: an essential and evolving toolbox for the diagnosis and clinical management of central nervous system tumors. Virchows Archiv, 484:181-194, Sep 2024. URL: https://doi.org/10.1007/s00428-023-03632-4, doi:10.1007/s00428-023-03632-4. This article has 25 citations and is from a peer-reviewed journal.

  17. (hardin2023loggiccorebioclinical pages 1-2): Emily C Hardin, Simone Schmid, Alexander Sommerkamp, Carina Bodden, Anna-Elisa Heipertz, Philipp Sievers, Andrea Wittmann, Till Milde, Stefan M Pfister, Andreas von Deimling, Svea Horn, Nina A Herz, Michèle Simon, Ashwyn A Perera, Amedeo Azizi, Ofelia Cruz, Sarah Curry, An Van Damme, Miklos Garami, Darren Hargrave, Antonis Kattamis, Barbara Faganel Kotnik, Päivi Lähteenmäki, Katrin Scheinemann, Antoinette Y N Schouten-van Meeteren, Astrid Sehested, Elisabetta Viscardi, Ole Mikal Wormdal, Michal Zapotocky, David S Ziegler, Arend Koch, Pablo Hernáiz Driever, Olaf Witt, David Capper, Felix Sahm, David T W Jones, and Cornelis M van Tilburg. Loggic core bioclinical data bank: added clinical value of rna-seq in an international molecular diagnostic registry for pediatric low-grade glioma patients. Neuro-oncology, 25:2087-2097, Apr 2023. URL: https://doi.org/10.1093/neuonc/noad078, doi:10.1093/neuonc/noad078. This article has 33 citations and is from a domain leading peer-reviewed journal.

  18. (hardin2023loggiccorebioclinical pages 3-5): Emily C Hardin, Simone Schmid, Alexander Sommerkamp, Carina Bodden, Anna-Elisa Heipertz, Philipp Sievers, Andrea Wittmann, Till Milde, Stefan M Pfister, Andreas von Deimling, Svea Horn, Nina A Herz, Michèle Simon, Ashwyn A Perera, Amedeo Azizi, Ofelia Cruz, Sarah Curry, An Van Damme, Miklos Garami, Darren Hargrave, Antonis Kattamis, Barbara Faganel Kotnik, Päivi Lähteenmäki, Katrin Scheinemann, Antoinette Y N Schouten-van Meeteren, Astrid Sehested, Elisabetta Viscardi, Ole Mikal Wormdal, Michal Zapotocky, David S Ziegler, Arend Koch, Pablo Hernáiz Driever, Olaf Witt, David Capper, Felix Sahm, David T W Jones, and Cornelis M van Tilburg. Loggic core bioclinical data bank: added clinical value of rna-seq in an international molecular diagnostic registry for pediatric low-grade glioma patients. Neuro-oncology, 25:2087-2097, Apr 2023. URL: https://doi.org/10.1093/neuonc/noad078, doi:10.1093/neuonc/noad078. This article has 33 citations and is from a domain leading peer-reviewed journal.

  19. (zhao2024emergingtrendsin pages 11-14): Yuxin Zhao, Zihan Xu, Yong Zhang, Ying Liu, Ming Ye, Rui Chen, Zhongyu Cao, Hong Zhou, and Yang Zhou. Emerging trends in glioma incidence and prognostic factors: a comprehensive analysis of the united states (2000-2018). Unknown journal, Feb 2024. URL: https://doi.org/10.21203/rs.3.rs-3913327/v1, doi:10.21203/rs.3.rs-3913327/v1.

  20. (pinson2024epidemiologyandsurvival pages 1-2): Harry Pinson, Geert Silversmit, Dimitri Vanhauwaert, Katrijn Vanschoenbeek, Jean-Pierre Kalala Okito, Steven De Vleeschouwer, Tom Boterberg, and Cindy De Gendt. Epidemiology and survival of adult-type diffuse glioma in belgium during the molecular era. Neuro-oncology, 26:191-202, Aug 2024. URL: https://doi.org/10.1093/neuonc/noad158, doi:10.1093/neuonc/noad158. This article has 28 citations and is from a domain leading peer-reviewed journal.

  21. (pinson2024epidemiologyandsurvival pages 3-4): Harry Pinson, Geert Silversmit, Dimitri Vanhauwaert, Katrijn Vanschoenbeek, Jean-Pierre Kalala Okito, Steven De Vleeschouwer, Tom Boterberg, and Cindy De Gendt. Epidemiology and survival of adult-type diffuse glioma in belgium during the molecular era. Neuro-oncology, 26:191-202, Aug 2024. URL: https://doi.org/10.1093/neuonc/noad158, doi:10.1093/neuonc/noad158. This article has 28 citations and is from a domain leading peer-reviewed journal.

  22. (pinson2024epidemiologyandsurvival pages 4-6): Harry Pinson, Geert Silversmit, Dimitri Vanhauwaert, Katrijn Vanschoenbeek, Jean-Pierre Kalala Okito, Steven De Vleeschouwer, Tom Boterberg, and Cindy De Gendt. Epidemiology and survival of adult-type diffuse glioma in belgium during the molecular era. Neuro-oncology, 26:191-202, Aug 2024. URL: https://doi.org/10.1093/neuonc/noad158, doi:10.1093/neuonc/noad158. This article has 28 citations and is from a domain leading peer-reviewed journal.

  23. (bertero2024molecularneuropathologyan pages 1-3): Luca Bertero, Luca Mangherini, Alessia Andrea Ricci, Paola Cassoni, and Felix Sahm. Molecular neuropathology: an essential and evolving toolbox for the diagnosis and clinical management of central nervous system tumors. Virchows Archiv, 484:181-194, Sep 2024. URL: https://doi.org/10.1007/s00428-023-03632-4, doi:10.1007/s00428-023-03632-4. This article has 25 citations and is from a peer-reviewed journal.

  24. (seyhan2024circulatingliquidbiopsy pages 48-49): Attila A. Seyhan. Circulating liquid biopsy biomarkers in glioblastoma: advances and challenges. International Journal of Molecular Sciences, 25:7974, Jul 2024. URL: https://doi.org/10.3390/ijms25147974, doi:10.3390/ijms25147974. This article has 76 citations.

  25. (seyhan2024circulatingliquidbiopsy pages 1-2): Attila A. Seyhan. Circulating liquid biopsy biomarkers in glioblastoma: advances and challenges. International Journal of Molecular Sciences, 25:7974, Jul 2024. URL: https://doi.org/10.3390/ijms25147974, doi:10.3390/ijms25147974. This article has 76 citations.

  26. (otsuji2024liquidbiopsyfor pages 12-14): Ryosuke Otsuji, Yutaka Fujioka, Nobuhiro Hata, Daisuke Kuga, Ryusuke Hatae, Yuhei Sangatsuda, Akira Nakamizo, Masahiro Mizoguchi, and Koji Yoshimoto. Liquid biopsy for glioma using cell-free dna in cerebrospinal fluid. Cancers, 16:1009, Feb 2024. URL: https://doi.org/10.3390/cancers16051009, doi:10.3390/cancers16051009. This article has 36 citations.

  27. (komori2023updateofthe pages 1-2): Takashi Komori. Update of the 2021 who classification of tumors of the central nervous system: adult diffuse gliomas. Brain Tumor Pathology, 40:1-3, Dec 2023. URL: https://doi.org/10.1007/s10014-022-00446-1, doi:10.1007/s10014-022-00446-1. This article has 13 citations and is from a peer-reviewed journal.

  28. (seyhan2024circulatingliquidbiopsy pages 49-51): Attila A. Seyhan. Circulating liquid biopsy biomarkers in glioblastoma: advances and challenges. International Journal of Molecular Sciences, 25:7974, Jul 2024. URL: https://doi.org/10.3390/ijms25147974, doi:10.3390/ijms25147974. This article has 76 citations.

  29. (segura2023seomgeinoclinicalguidelines pages 1-2): Pedro Pérez Segura, Noelia Vilariño Quintela, María Martínez García, Sonia del Barco Berrón, Regina Gironés Sarrió, Jesús García Gómez, Almudena García Castaño, Luis Miguel Navarro Martín, Oscar Gallego Rubio, and Estela Pineda Losada. Seom-geino clinical guidelines for high-grade gliomas of adulthood (2022). Clinical & Translational Oncology, 25:2634-2646, Aug 2023. URL: https://doi.org/10.1007/s12094-023-03245-y, doi:10.1007/s12094-023-03245-y. This article has 46 citations and is from a peer-reviewed journal.

  30. (segura2023seomgeinoclinicalguidelines pages 4-5): Pedro Pérez Segura, Noelia Vilariño Quintela, María Martínez García, Sonia del Barco Berrón, Regina Gironés Sarrió, Jesús García Gómez, Almudena García Castaño, Luis Miguel Navarro Martín, Oscar Gallego Rubio, and Estela Pineda Losada. Seom-geino clinical guidelines for high-grade gliomas of adulthood (2022). Clinical & Translational Oncology, 25:2634-2646, Aug 2023. URL: https://doi.org/10.1007/s12094-023-03245-y, doi:10.1007/s12094-023-03245-y. This article has 46 citations and is from a peer-reviewed journal.

  31. (ballo2023associationoftumor pages 1-2): Matthew T. Ballo, Patrick Conlon, Gitit Lavy-Shahaf, Adrian Kinzel, Josef Vymazal, and Aaron M. Rulseh. Association of tumor treating fields (ttfields) therapy with survival in newly diagnosed glioblastoma: a systematic review and meta-analysis. Journal of Neuro-Oncology, 164:1-9, Jul 2023. URL: https://doi.org/10.1007/s11060-023-04348-w, doi:10.1007/s11060-023-04348-w. This article has 94 citations and is from a peer-reviewed journal.

  32. (mrugala2024globalpost‑marketingsafety pages 1-2): Maciej M. Mrugala, Wenyin Shi, Fabio Iwomoto, Rimas V. Lukas, Joshua D. Palmer, John H. Suh, and Martin Glas. Global post‑marketing safety surveillance of tumor treating fields (ttfields) therapy in over 25,000 patients with cns malignancies treated between 2011–2022. Journal of Neuro-Oncology, 169:25-38, Jun 2024. URL: https://doi.org/10.1007/s11060-024-04682-7, doi:10.1007/s11060-024-04682-7. This article has 25 citations and is from a peer-reviewed journal.

  33. (mellinghoff2023vorasidenibinidh1 pages 1-3): Ingo K. Mellinghoff, Martin J. van den Bent, Deborah T. Blumenthal, Mehdi Touat, Katherine B. Peters, Jennifer Clarke, Joe Mendez, Shlomit Yust-Katz, Liam Welsh, Warren P. Mason, François Ducray, Yoshie Umemura, Burt Nabors, Matthias Holdhoff, Andreas F. Hottinger, Yoshiki Arakawa, Juan M. Sepulveda, Wolfgang Wick, Riccardo Soffietti, James R. Perry, Pierre Giglio, Macarena de la Fuente, Elizabeth A. Maher, Steven Schoenfeld, Dan Zhao, Shuchi S. Pandya, Lori Steelman, Islam Hassan, Patrick Y. Wen, and Timothy F. Cloughesy. Vorasidenib in idh1- or idh2-mutant low-grade glioma. Aug 2023. URL: https://doi.org/10.1056/nejmoa2304194, doi:10.1056/nejmoa2304194. This article has 884 citations and is from a highest quality peer-reviewed journal.

  34. (ruda2024idhinhibitionin pages 6-7): Roberta Rudà, Craig Horbinski, Martin van den Bent, Matthias Preusser, and Riccardo Soffietti. Idh inhibition in gliomas: from preclinical models to clinical trials. Nature Reviews Neurology, 20:395-407, May 2024. URL: https://doi.org/10.1038/s41582-024-00967-7, doi:10.1038/s41582-024-00967-7. This article has 100 citations and is from a highest quality peer-reviewed journal.

  35. (ballo2023associationoftumor pages 5-6): Matthew T. Ballo, Patrick Conlon, Gitit Lavy-Shahaf, Adrian Kinzel, Josef Vymazal, and Aaron M. Rulseh. Association of tumor treating fields (ttfields) therapy with survival in newly diagnosed glioblastoma: a systematic review and meta-analysis. Journal of Neuro-Oncology, 164:1-9, Jul 2023. URL: https://doi.org/10.1007/s11060-023-04348-w, doi:10.1007/s11060-023-04348-w. This article has 94 citations and is from a peer-reviewed journal.

  36. (nishikawa2023safetyandefficacy pages 1-2): Ryo Nishikawa, Fumiyuki Yamasaki, Yoshiki Arakawa, Yoshihiro Muragaki, Yoshitaka Narita, Shota Tanaka, Shigeru Yamaguchi, Akitake Mukasa, and Masayuki Kanamori. Safety and efficacy of tumour-treating fields (ttfields) therapy for newly diagnosed glioblastoma in japanese patients using the novo-ttf system: a prospective post-approval study. Japanese Journal of Clinical Oncology, 53:371-377, Jan 2023. URL: https://doi.org/10.1093/jjco/hyad001, doi:10.1093/jjco/hyad001. This article has 26 citations and is from a peer-reviewed journal.

  37. (lamb2024vorasidenibfirstapproval pages 4-5): Yvette N. Lamb. Vorasidenib: first approval. Drugs, 84:1325-1331, Oct 2024. URL: https://doi.org/10.1007/s40265-024-02097-2, doi:10.1007/s40265-024-02097-2. This article has 42 citations and is from a domain leading peer-reviewed journal.

  38. (gross2021cannabidiolinducesapoptosis pages 1-2): Chase Gross, Dominique A. Ramirez, Stephanie McGrath, and Daniel L. Gustafson. Cannabidiol induces apoptosis and perturbs mitochondrial function in human and canine glioma cells. Frontiers in Pharmacology, Aug 2021. URL: https://doi.org/10.3389/fphar.2021.725136, doi:10.3389/fphar.2021.725136. This article has 73 citations.

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