Dysembryoplastic Neuroepithelial Tumor (DNET/DNT): Disease Characteristics Research Report

Target disease: Dysembryoplastic neuroepithelial tumor (also written dysembryoplastic neuroepithelial tumour; abbreviation DNET or DNT). (rahim2023clinicopathologicalfeaturesof pages 1-2, khalilov2024atypicalpresentationof pages 1-2)

Category (high level): WHO-defined circumscribed glioneuronal tumor; a prototypic low-grade epilepsy-associated neuroepithelial tumor (LEAT) entity. (xie2023lowgradeepilepsyassociatedneuroepithelial pages 1-2, rosemberg2023longtermepilepsyassociatedtumors pages 1-2)

MONDO ID: Not found in the retrieved primary literature corpus used here (evidence gap noted). (rosemberg2023longtermepilepsyassociatedtumors pages 1-2)

Executive snapshot (knowledge-base compact)

Table: This compact table summarizes core disease-characteristic facts for dysembryoplastic neuroepithelial tumor (DNET/DNT), including classification, phenotype, molecular genetics, diagnosis, treatment, and prognosis. It is designed as a concise knowledge-base-ready snapshot with quantitative details and context-ID citations.

1. Disease Information

1.1 What is the disease?

Dysembryoplastic neuroepithelial tumor is a rare, benign/indolent, supratentorial, epilepsy-associated glioneuronal tumor that most commonly affects children and young adults and typically presents with long-standing focal seizures, often drug-resistant. (rahim2023clinicopathologicalfeaturesof pages 1-2, khalilov2024atypicalpresentationof pages 1-2)

Within the LEAT concept (long-term/low-grade epilepsy-associated tumors), DNET is recognized as one of the typical representatives alongside ganglioglioma, with a predilection for neocortical temporal lobe involvement and generally benign growth behavior. (xie2023lowgradeepilepsyassociatedneuroepithelial pages 1-2, rosemberg2023longtermepilepsyassociatedtumors pages 1-2)

1.2 WHO grade and classification context

Multiple WHO-2021 (5th edition) aligned sources list DNET/DNT as WHO grade 1 within LEAT/glioneuronal tumor groupings. (xie2023lowgradeepilepsyassociatedneuroepithelial pages 2-3, xie2023lowgradeepilepsyassociatedneuroepithelial media 10d99c66)

1.3 Synonyms and alternative names

• Dysembryoplastic neuroepithelial tumor (US spelling) / tumour (UK spelling). (pages2022thegenomiclandscape pages 10-10)
• Dysembryoplastic neuroepithelial tumor (DNET) / dysembryoplastic neuroepithelial tumour (DNT). (rahim2023clinicopathologicalfeaturesof pages 1-2)
• Informal clinical term: “epileptoma” (used for highly epileptogenic low-grade tumors such as DNET and ganglioglioma). (khalilov2024atypicalpresentationof pages 1-2)

1.4 Key identifiers (OMIM, Orphanet, ICD-10/ICD-11, MeSH, MONDO)

No explicit OMIM/Orphanet/ICD/MeSH/MONDO identifiers were present in the retrieved full-text evidence set. This report therefore does not assert codes without direct supporting evidence. (rosemberg2023longtermepilepsyassociatedtumors pages 1-2)

1.5 Evidence source type

Most disease-level information here is derived from aggregated literature sources (reviews, cohorts) plus a few case reports/case series and a clinical registry trial record, rather than EHR-only data. (rosemberg2023longtermepilepsyassociatedtumors pages 1-2, rahim2023clinicopathologicalfeaturesof pages 1-2, NCT03970785 chunk 1)

2. Etiology

2.1 Disease causal factors

Primary causal factors are somatic oncogenic alterations, most commonly involving FGFR1 and the downstream MAPK/ERK pathway, consistent with a developmental/circumscribed tumor biology typical for LEATs. (rivera2016germlineandsomatic pages 1-2, rivera2016germlineandsomatic pages 12-15)

Rivera et al. explicitly conclude that “constitutional and somatic FGFR1 alterations and MAP kinase pathway activation are key events in the pathogenesis of DNET,” supporting a molecularly driven etiology. (rivera2016germlineandsomatic pages 1-2)

2.2 Risk factors

Clinical/demographic risk: DNET is predominantly encountered in children/adolescents/young adults (e.g., LEAT seizure onset often around early teens) and occurs supratentorially with temporal predilection, but established population-level environmental risk factors were not identified in the retrieved corpus. (xie2023lowgradeepilepsyassociatedneuroepithelial pages 1-2, rahim2023clinicopathologicalfeaturesof pages 1-2)

Genetic risk: Most evidence supports somatic drivers rather than inherited predisposition; however, a familial scenario with a germline FGFR1 mutation (p.R661P) plus somatic “second hits” was reported, demonstrating a possible (rare) inherited predisposition mechanism in select families. (rivera2016germlineandsomatic pages 1-2)

2.3 Protective factors

No protective genetic variants or environmental protective factors were identified in the retrieved corpus. (rosemberg2023longtermepilepsyassociatedtumors pages 1-2)

2.4 Gene–environment interactions

No gene–environment interaction evidence was identified in the retrieved corpus. (rosemberg2023longtermepilepsyassociatedtumors pages 1-2)

3. Phenotypes (clinical features)

3.1 Core phenotypes (with suggested HPO terms)

DNET is strongly linked to epilepsy; seizures are typically focal and may be drug-resistant. (rahim2023clinicopathologicalfeaturesof pages 1-2, khalilov2024atypicalpresentationof pages 1-2)

Key phenotypes: * Focal seizures / epilepsy (often drug-resistant) — suggested HPO: HP:0001250 (Seizures); HP:0002197 (Generalized seizures) when present; HP:0007359 (Focal seizures) (term name may vary by HPO release). (xie2023lowgradeepilepsyassociatedneuroepithelial pages 1-2, rahim2023clinicopathologicalfeaturesof pages 1-2) * Headache can occur, including rare presentations without epilepsy — suggested HPO: HP:0002315 (Headache). (khalilov2024atypicalpresentationof pages 1-2)

3.2 Phenotype characteristics (age of onset, severity, progression)

• Age of onset: LEATs typically have seizure onsets at a young age (commonly cited ~12–15 years) and DNETs are described as occurring in children/adolescents and young adults. (xie2023lowgradeepilepsyassociatedneuroepithelial pages 1-2, rahim2023clinicopathologicalfeaturesof pages 1-2)
• Progression: biologically stable/benign course is typical, with rare malignant transformation. (khalilov2024atypicalpresentationof pages 1-2, zhang2022longtermseizureoutcomes pages 1-2)

Quantitative examples from a 2023 case series (Pakistan; n=14): age range 9–45 years (mean 19), seizure duration pre-resection 2 months to 9 years (mean 3.2 years), with temporal and frontal lobes most common sites. (rahim2023clinicopathologicalfeaturesof pages 1-2)

3.3 Quality of life impact

Seizures are commonly chronic and may be refractory, motivating epilepsy surgery; thus, DNET can substantially impact function through seizure burden (school/work limitations and medication adverse effects), although disease-specific validated QOL metrics were not extracted from the retrieved corpus. (rosemberg2023longtermepilepsyassociatedtumors pages 1-2, avila2024braintumorrelatedepilepsy pages 10-11)

4. Genetic/Molecular Information

4.1 Causal genes and pathways

The dominant molecular theme is RTK → RAS/MAPK/ERK activation, with FGFR1 as a key oncogenic driver in many DNETs; subsets also show alterations converging on PI3K/mTOR. (rivera2016germlineandsomatic pages 1-2, surrey2019genomicanalysisof pages 1-1)

4.2 Pathogenic variants and alteration types (somatic vs germline)

FGFR1 alterations in DNET include: * Hotspot missense mutations (e.g., p.N546K, p.K656E) (rivera2016germlineandsomatic pages 1-2, lucas2020comprehensiveanalysisof pages 1-2) * Tyrosine kinase domain duplication / internal tandem duplication (ITD) (rivera2016germlineandsomatic pages 1-2, pages2022thegenomiclandscape pages 10-10) * Rare fusions/breakpoints involving FGFR1 (rivera2016germlineandsomatic pages 12-15, pages2022thegenomiclandscape pages 10-10)

Somatic vs germline: Rivera et al. provide explicit evidence of both, reporting a germline FGFR1 p.R661P with somatic activating FGFR1 hotspot mutations (p.N546K or p.K656E) in tumor, including a case where p.K656E occurred in cis with the germline variant. (rivera2016germlineandsomatic pages 1-2)

4.3 Frequencies/statistics for molecular alterations

Well-curated DNET cohorts show high enrichment of FGFR1 alterations: * In a neuropathology-confirmed cohort (43 cases), FGFR1 alterations were frequent and “mainly comprised intragenic tyrosine kinase FGFR1 duplication and multiple mutants in cis (25/43; 58.1%) while BRAF p.V600E alterations were absent (0/43).” (rivera2016germlineandsomatic pages 1-2) * In a cohort of 58 “specific” DNTs, Pagès et al. report FGFR1 disruption (mutation, ITD, fusion) and state “In our cohort of 58 specific DNTs, we found a similar frequency (68%)” (of FGFR1-related events). (pages2022thegenomiclandscape pages 10-10)

Broader DNT/MNGT spectrum sequencing shows that alterations frequently converge on MAPK/PI3K signaling; in one series, “more than half” (19/33) of analyzed tumors had alterations predicted to dysregulate MAPK and/or PI3K pathways. (surrey2019genomicanalysisof pages 1-1)

4.4 Other drivers and rare events

• NTRK2 fusion: A DNET case reported a novel LHFPL3::NTRK2 fusion retaining the NTRK2 tyrosine kinase domain; authors describe likely pathogenicity through constitutive RTK signaling. (chen2022casereporta pages 1-2)
• BRAF V600E: Literature reports exist, but BRAF V600E may be absent in some well-curated “specific DNT” cohorts (e.g., none detected in two cohorts summarized above). (rivera2016germlineandsomatic pages 1-2, pages2022thegenomiclandscape pages 10-10)

4.5 Epigenetic information

DNA methylation profiling is increasingly used for difficult-to-classify low-grade neuroepithelial tumors and can support/refine diagnosis beyond morphology alone; however, DNET-specific methylation subclass statistics were not available from the retrieved evidence set. (gatesman2024characterizationoflow‐grade pages 1-2)

5. Environmental Information

No validated environmental/lifestyle/infectious causal factors were identified for DNET in the retrieved corpus. (rosemberg2023longtermepilepsyassociatedtumors pages 1-2)

6. Mechanism / Pathophysiology

6.1 Causal chain (molecular → cellular → clinical)

A commonly supported mechanistic chain is: 1) FGFR1 activation (hotspot mutation, ITD/kinase duplication, or fusion) → 2) increased MAPK/ERK signaling (phospho-ERK upregulation) → 3) tumor formation/maintenance in cortex (glioneuronal tumor microenvironment) → 4) cortical network hyperexcitability and epileptogenesis, clinically manifesting as focal seizures and drug-resistant epilepsy; seizure burden is also influenced by the epileptogenic zone extending into peritumoral cortex and co-existing focal cortical dysplasia (“dual pathology”). (rivera2016germlineandsomatic pages 12-15, xie2023lowgradeepilepsyassociatedneuroepithelial pages 1-2, bonney2016reviewofseizure pages 4-5)

Rivera et al. provide functional support for MAPK activation: phospho-ERK was upregulated in FGFR1-mutated cases and they report immunohistochemical confirmation of phospho-ERK upregulation in “24/35 (69%)” of FGFR1-mutated cases. (rivera2016germlineandsomatic pages 12-15)

6.2 Upstream vs downstream mechanisms

• Upstream: receptor tyrosine kinase (FGFR1) activating events; rare RTK fusions (e.g., NTRK2) (rivera2016germlineandsomatic pages 1-2, chen2022casereporta pages 1-2)
• Downstream: MAPK/ERK and sometimes PI3K/mTOR pathway dysregulation (surrey2019genomicanalysisof pages 1-1, rivera2016germlineandsomatic pages 12-15)

6.3 Cell types (suggested CL terms) and biological processes (suggested GO terms)

The tumor is glioneuronal, implicating glial-lineage and neuronal components and peritumoral neuronal circuitry.

Suggested Cell Ontology (CL) terms (examples): * CL:0000540 (Neuron) for epileptogenic network effects and “floating neurons” concept (pathology context). (rahim2023clinicopathologicalfeaturesof pages 1-2) * CL:0000127 (Astrocyte) and CL:0000128 (Oligodendrocyte) as relevant to glial components/oligodendrocyte-like cells described histologically. (rahim2023clinicopathologicalfeaturesof pages 1-2)

Suggested GO Biological Process terms (examples): * MAPK cascade (e.g., GO:0000165) and ERK1/2 cascade (relevant to phospho-ERK evidence). (rivera2016germlineandsomatic pages 12-15) * Regulation of synaptic transmission / neuronal excitability (epileptogenesis context; general). (avila2024braintumorrelatedepilepsy pages 10-11)

7. Anatomical Structures Affected

7.1 Organ/system level

Primary system affected is the central nervous system (brain), with seizures as the dominant symptom. (rahim2023clinicopathologicalfeaturesof pages 1-2, xie2023lowgradeepilepsyassociatedneuroepithelial pages 1-2)

7.2 Localization (suggested UBERON terms)

DNET is typically supratentorial and cortical with strong temporal lobe predominance and frequent frontal involvement. (rahim2023clinicopathologicalfeaturesof pages 1-2, xie2023lowgradeepilepsyassociatedneuroepithelial pages 1-2)

Suggested UBERON terms (examples): * UBERON:0000955 (brain) * UBERON:0001870 (cerebral cortex) * UBERON:0002285 (temporal lobe) * UBERON:0001871 (frontal lobe)

7.3 Tissue/cell level and subcellular components

A frequent associated lesion is focal cortical dysplasia adjacent to tumor (dual pathology), implicating both tumor and surrounding cortex. (khalilov2024atypicalpresentationof pages 1-2)

8. Temporal Development

8.1 Onset

DNETs are described as occurring most often in childhood/adolescence; LEAT seizures commonly begin in early teens and frequently precede surgery by years. (xie2023lowgradeepilepsyassociatedneuroepithelial pages 1-2, rahim2023clinicopathologicalfeaturesof pages 1-2)

8.2 Progression/course

Tumors are usually slow-growing/indolent with long seizure histories; malignant transformation is rare. (xie2023lowgradeepilepsyassociatedneuroepithelial pages 1-2, zhang2022longtermseizureoutcomes pages 1-2)

9. Inheritance and Population

9.1 Epidemiology

Quantitative epidemiology is limited but a large surgical cohort review reports DNET incidence around 0.03/100,000/year (US estimate) and highlights that DNET constitutes a substantial fraction of LEAT diagnoses in epilepsy surgery series. (zhang2022longtermseizureoutcomes pages 1-2, iijima2024genotyperelevantneuroimagingfeatures pages 1-2)

9.2 Inheritance

DNET is primarily driven by somatic alterations, but rare familial predisposition via germline FGFR1 alteration has been reported. (rivera2016germlineandsomatic pages 1-2)

10. Diagnostics

10.1 Clinical workup

Diagnosis is typically based on seizure history plus MRI and confirmatory histopathology; preoperative epilepsy workup commonly includes long-term video-EEG, with additional modalities (MEG, PET, invasive monitoring) when needed to define the epileptogenic zone. (zhang2022longtermseizureoutcomes pages 2-5, takayama2022ishippocampalresection pages 1-2)

10.2 Imaging

MRI is emphasized as the key modality; lesions are often cortical-based and may be classified into morphologic patterns (e.g., cystic-like, nodular-like, dysplastic-like). (zhang2022longtermseizureoutcomes pages 2-5, rahim2023clinicopathologicalfeaturesof pages 1-2)

A 2024 radiogenomic study in LEATs showed that certain imaging patterns can predict genotype with high accuracy, reporting imaging groups with “93.8% sensitivity and 100% specificity to BRAF V600E” (Group 1) and “100% sensitivity and specificity for FGFR1 mutations” (Group 2). (iijima2024genotyperelevantneuroimagingfeatures pages 1-2)

10.3 Histopathology

Characteristic pathology includes a multinodular architecture and “floating neurons” within a specific glioneuronal element; Ki-67 is typically very low. (rahim2023clinicopathologicalfeaturesof pages 1-2)

10.4 Molecular diagnostics (NGS, methylation)

Molecular profiling supports diagnosis and may clarify difficult cases, particularly in the DNT/MNGT/PLNTY spectrum where morphology overlaps; testing may include targeted DNA/RNA sequencing for FGFR1/BRAF/NTRK alterations and methylation arrays. (surrey2019genomicanalysisof pages 1-1, gatesman2024characterizationoflow‐grade pages 1-2)

A 2024 proof-of-concept study demonstrated feasibility of extracting tumor DNA from tissue adherent to stereoelectroencephalography (sEEG) electrodes and performing targeted sequencing and DNA methylation array analysis to aid classification. (gatesman2024characterizationoflow‐grade pages 1-2)

11. Outcome/Prognosis

11.1 Seizure outcomes after surgery (key quantitative data)

In a 63-patient DNET cohort (2008–2021), 49/63 (77.8%) were seizure-free after surgery, with cumulative seizure recurrence-free rates 82.5% (2 years), 79.0% (5 years), 76.5% (10 years). (zhang2022longtermseizureoutcomes pages 1-2)

A systematic review of surgical series reported a median seizure-freedom rate of 86% (IQR 77–93%) and highlighted that gross-total resection is repeatedly associated with seizure freedom. (bonney2016reviewofseizure pages 4-5)

11.2 Prognostic factors

Predictors of better seizure outcomes include gross total resection and shorter epilepsy duration, while certain imaging patterns (e.g., dysplastic-like) and bilateral interictal epileptiform discharges may predict poorer seizure outcomes. (zhang2022longtermseizureoutcomes pages 1-2)

12. Treatment

12.1 Surgical and interventional (standard of care)

Maximal safe surgical resection/lesionectomy is widely considered the optimal approach to achieve seizure control and durable tumor control in LEATs, including DNET. (xie2023lowgradeepilepsyassociatedneuroepithelial pages 1-2)

A hippocampus-sparing strategy may be appropriate in selected temporal-lobe LEATs with normal hippocampus: in a cohort of 32 temporal LEAT cases, 28/32 (87.5%) achieved seizure freedom irrespective of hippocampal resection, and additional hippocampal resection negatively impacted verbal outcomes. (takayama2022ishippocampalresection pages 1-2)

Real-world implementation example: an observational clinical registry study evaluated intraoperative fluorescein-guided resection feasibility for ganglioglioma and DNET (NCT03970785), using surgical video review and postoperative MRI to assess fluorescence and extent of resection, with Engel-classification seizure outcomes. (NCT03970785 chunk 1)

12.2 Pharmacotherapy: antiseizure medications (ASMs)

DNET-associated epilepsy is frequently treated with ASMs but may be drug-resistant; consensus neuro-oncology practice avoids routine prophylactic ASM use in seizure-naïve patients. (rahim2023clinicopathologicalfeaturesof pages 1-2, avila2024braintumorrelatedepilepsy pages 10-11)

A 2024 Society for Neuro-Oncology consensus review states prophylactic ASM in seizure-naïve brain tumor patients lacks high-quality evidence, yet ~70% of neurosurgeons give a short postoperative course (commonly levetiracetam for 7 days after supratentorial craniotomy); meta-analysis showed reduced early postoperative seizures (RR 0.35, 95% CI 0.13–0.95) but not late seizures. (avila2024braintumorrelatedepilepsy pages 10-11)

Newton & Wojkowski (2024) summarize that seizures affect >50% of brain tumor patients overall and provide tumor-specific estimates (DNET ~100%), and similarly advise that prophylactic AEDs are not recommended; after a first verified seizure, consensus is to start ASM monotherapy, most often levetiracetam (with alternatives/add-ons including lacosamide, valproate, brivaracetam, lamotrigine, and perampanel). (newton2024antiepilepticstrategiesfor pages 1-3)

12.3 Targeted/experimental therapy

Because DNET biology is frequently MAPK-driven (FGFR1 alterations, RTK fusions), MEK-pathway targeting is being evaluated within broader pediatric/AYA low-grade glioma frameworks.

Clinical trial example (MAPK-pathway therapy): SJ901 (NCT04923126) evaluates mirdametinib (MEK1/2 inhibitor) in pediatric/AYA low-grade glioma and explicitly includes LEAT histologies such as dysembryoplastic neuroepithelial tumor (DNET) among eligible conditions; a separate protocol chunk specifies requirement for centrally reviewed MAPK-pathway activation evidence (including FGFR1/2/3 aberrations and other RAS/MAPK genes). (NCT04923126 chunk 2, NCT04923126 chunk 4)

12.4 Suggested MAXO (Medical Action Ontology) terms

Because MAXO codes were not present in the evidence corpus, the following are suggested as likely appropriate mappings (to be verified against MAXO): * Neurosurgical resection of brain tumor (lesionectomy/gross total resection). (xie2023lowgradeepilepsyassociatedneuroepithelial pages 1-2) * Antiseizure medication therapy (levetiracetam monotherapy; add-on therapy). (avila2024braintumorrelatedepilepsy pages 10-11) * Stereoelectroencephalography (SEEG) monitoring / intracranial EEG evaluation. (gatesman2024characterizationoflow‐grade pages 1-2) * Intraoperative fluorescence-guided surgery. (NCT03970785 chunk 1) * MEK inhibitor therapy (mirdametinib clinical trial context). (NCT04923126 chunk 2)

13. Prevention

No primary-prevention interventions are established for DNET based on available evidence; secondary prevention in practice is largely early recognition of epileptogenic lesions and timely referral for epilepsy surgery evaluation when seizures are drug-resistant. (xie2023lowgradeepilepsyassociatedneuroepithelial pages 1-2)

14. Other Species / Natural Disease

No naturally occurring DNET analogue in non-human species was identified in the retrieved corpus. (rosemberg2023longtermepilepsyassociatedtumors pages 1-2)

15. Model Organisms

A 2024 review on epilepsy-associated tumors notes improving animal modeling capacity for low-grade neuroepithelial tumors (LGNTs) with tools such as in utero electroporation to generate tumors with relevant genetic features; however, DNET-specific validated model organism details were not extracted from the retrieved evidence set. (rahim2023clinicopathologicalfeaturesof pages 6-7)

Recent developments and expert analysis (2023–2024 emphasis)

2023–2024: classification and diagnostic modernization

Recent LEAT-focused reviews emphasize that DNET is a core LEAT entity and that the WHO CNS 2021 classification recognized additional epilepsy-associated tumor entities, increasing the importance of integrated diagnosis using histology plus molecular tools. (rosemberg2023longtermepilepsyassociatedtumors pages 1-2, xie2023lowgradeepilepsyassociatedneuroepithelial pages 1-2)

A WHO-2021-based LEAT table explicitly lists DNET as WHO grade 1 with characteristic genetic alteration FGFR1, supporting a molecularly anchored diagnostic approach rather than morphology alone. (xie2023lowgradeepilepsyassociatedneuroepithelial media 10d99c66)

2024: radiogenomics and minimally invasive molecular profiling

The 2024 radiogenomic study provides a practical framework suggesting that preoperative neuroimaging patterns can predict genotype, potentially enabling earlier precision planning (e.g., anticipating FGFR1 vs BRAF-driven lesions), and also indicates seizure outcomes may differ by genotype-associated imaging group. (iijima2024genotyperelevantneuroimagingfeatures pages 1-2)

A 2024 proof-of-concept sEEG-electrode approach suggests that neurosurgical epilepsy workflows can also become molecular diagnostic workflows, enabling targeted sequencing and methylation analysis from microscopic tissue without requiring a separate biopsy procedure. (gatesman2024characterizationoflow‐grade pages 1-2)

2024: consensus TRE management

The 2024 SNO consensus emphasizes evidence-based antiseizure management principles that generalize to DNET patients (especially perioperative decisions): no strong support for routine prophylaxis in seizure-naïve cases, frequent use of short postoperative levetiracetam courses, preference for monotherapy and non–enzyme-inducing ASMs, and escalation toward local therapies (surgery/irradiation) for drug-resistant seizures. (avila2024braintumorrelatedepilepsy pages 10-11)

URLs and publication dates (selected key sources)

• Rahim et al. “Clinicopathological features of dysembryoplastic neuroepithelial tumor: a case series” (2023-08). https://doi.org/10.1186/s13256-023-04062-1 (rahim2023clinicopathologicalfeaturesof pages 1-2)
• Khalilov et al. “Atypical presentation of dysembryoplastic neuroepithelial tumor” (2024-10). https://doi.org/10.17816/acen.1126 (khalilov2024atypicalpresentationof pages 1-2)
• Iijima et al. “Genotype-relevant neuroimaging features in low-grade epilepsy-associated tumors” (2024-07). https://doi.org/10.3389/fneur.2024.1419104 (iijima2024genotyperelevantneuroimagingfeatures pages 1-2)
• Avila et al. SNO consensus “Brain tumor-related epilepsy management…” (2024-09). https://doi.org/10.1093/neuonc/noad154 (avila2024braintumorrelatedepilepsy pages 10-11)
• Newton & Wojkowski “Antiepileptic strategies…” (2024-02). https://doi.org/10.1007/s11864-024-01182-8 (newton2024antiepilepticstrategiesfor pages 1-3)
• ClinicalTrials.gov NCT03970785 (first posted 2019-06-03; study 2015–2018 cases): https://clinicaltrials.gov/study/NCT03970785 (NCT03970785 chunk 1)
• ClinicalTrials.gov NCT04923126 (first posted 2021-06-18): https://clinicaltrials.gov/study/NCT04923126 (NCT04923126 chunk 2)

Evidence gaps and limitations (for knowledge-base curation)

• Formal external identifiers (MeSH, ICD-10/11, Orphanet, MONDO, OMIM) were not retrievable from the current evidence set; they should be added from dedicated ontology resources (not inferred). (rosemberg2023longtermepilepsyassociatedtumors pages 1-2)
• DNET-specific methylation subclass definitions and epigenetic prognostic biomarkers were not extractable from the retrieved texts; further targeted retrieval of DKFZ classifier class descriptions and DNET methylation studies would be needed. (gatesman2024characterizationoflow‐grade pages 1-2)
• Non-human natural disease and validated DNET-specific model organism details were not identified in the retrieved corpus. (rahim2023clinicopathologicalfeaturesof pages 6-7)

References

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21. (NCT03970785 chunk 1): Intraoperative Fluorescence of Ganglogliomas and Neuroepithelial Dysembryoplastic Tumors. Rennes University Hospital. 2018. ClinicalTrials.gov Identifier: NCT03970785

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