Burkitt Lymphoma

MONDO:0007243 Pathograph 14 Show in embeddings browser non-Hodgkin lymphoma

Burkitt lymphoma is a highly aggressive B-cell non-Hodgkin lymphoma characterized by MYC oncogene translocation, typically t(8;14)(q24;q32) involving the immunoglobulin heavy chain locus. Three clinical variants exist: endemic (African), sporadic, and immunodeficiency-associated. Endemic Burkitt lymphoma is strongly associated with Epstein-Barr virus (EBV) infection and commonly presents as jaw tumors in children in malaria-endemic regions. The disease exemplifies the role of MYC dysregulation in driving exceptionally rapid cell proliferation and clinical progression.

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4
Pathophys.
1
Histopath.
7
Phenotypes
14
Pathograph
5
Genes
3
Medical Actions
3
Subtypes
6
Datasets
7
References
1
Deep Research
🏷

Classifications

ICD-O Morphology
Lymphoma
Harrison's Part
ONCOLOGY HEMATOLOGY
◆

Subtypes

3
Endemic Burkitt Lymphoma
African variant strongly associated with EBV infection (approximately 95%), occurring predominantly in children in equatorial Africa. Classically presents as jaw or facial tumors. Geographic distribution correlates with malaria endemicity, suggesting chronic immune activation as a cofactor.
Show evidence (2 references)
DOI:10.1182/blood.2019004099 SUPPORT Human Clinical
"Burkitt lymphoma (BL) is a highly aggressive, B-cell, non-Hodgkin lymphoma categorized into endemic, sporadic, and immunodeficiency-associated subtypes."
This treatment review explicitly recognizes endemic BL as one of the three clinical-epidemiologic subtypes.
PMID:7797201 SUPPORT Human Clinical
"There is a strong association (approximately 95%) of endemic Burkitt's lymphoma with Epstein-Barr virus (EBV)"
The abstract directly quantifies the strong EBV association in endemic Burkitt lymphoma.
Sporadic Burkitt Lymphoma
Occurs worldwide without geographic restriction. Less commonly EBV-associated than endemic disease and commonly presents with abdominal involvement. It affects children, adolescents, and adults.
Show evidence (1 reference)
DOI:10.1182/blood.2019004099 SUPPORT Human Clinical
"Burkitt lymphoma (BL) is a highly aggressive, B-cell, non-Hodgkin lymphoma categorized into endemic, sporadic, and immunodeficiency-associated subtypes."
This treatment review explicitly recognizes sporadic BL as one of the three clinical-epidemiologic subtypes.
Immunodeficiency-Associated Burkitt Lymphoma
Occurs in patients with HIV/AIDS or other immunodeficiency states. EBV association is variable. Management must address both the lymphoma and the underlying immunodeficiency.
Show evidence (1 reference)
DOI:10.1182/blood.2019004099 SUPPORT Human Clinical
"Burkitt lymphoma (BL) is a highly aggressive, B-cell, non-Hodgkin lymphoma categorized into endemic, sporadic, and immunodeficiency-associated subtypes."
This treatment review explicitly recognizes immunodeficiency-associated BL as one of the three clinical-epidemiologic subtypes.
⚙

Pathophysiology

4
MYC Translocation and Oncogene Activation
The hallmark of Burkitt lymphoma is translocation of the MYC oncogene on chromosome 8 to an immunoglobulin locus, most commonly t(8;14)(q24;q32) involving the IGH locus, or less commonly t(2;8) or t(8;22) involving light chain loci. This places MYC under control of immunoglobulin enhancers, resulting in constitutive MYC overexpression.
germinal center B cell CL:0000844 Cell Ontology (CL) Relation: this pathophysiological event involves this cell type This pathophysiological event involves germinal center B cell (CL:0000844). CL:0000844 is a cell type from the Cell Ontology.
MYC hgnc:7553 HUGO Gene Nomenclature Committee (hgnc) Relation: this pathophysiological event involves this gene This pathophysiological event involves MYC (hgnc:7553). hgnc:7553 is a gene from the HUGO Gene Nomenclature Committee.
positive regulation of transcription by RNA polymerase II GO:0045944 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves increased positive regulation of transcription by RNA polymerase II (GO:0045944). GO:0045944 is a biological process from the Gene Ontology. ↑ INCREASED
Downstream
Uncontrolled B-Cell Proliferation MYC drives cell cycle entry and proliferation
Apoptosis Resistance MYC cooperates with anti-apoptotic signals to enable tumor cell survival
Show evidence (2 references)
PMID:40893393 SUPPORT Human Clinical
"Burkitt lymphoma (BL) is an aggressive B-cell malignancy characterized by rapid progression and MYC gene translocations."
This abstract directly identifies MYC translocations as a defining feature of Burkitt lymphoma.
PMID:1301171 SUPPORT In Vitro
"In about 80% of Burkitt's lymphoma cases, the tumour cell harbours a reciprocal chromosomal translocation which invariably transposes the coding exons 2 and 3 of c-myc from chromosome 8 to the immunoglobulin heavy chain locus on chromosome 14."
Abstract reports MYC translocation to immunoglobulin loci in most Burkitt lymphoma cases.
Uncontrolled B-Cell Proliferation
Constitutive MYC activity drives cell-cycle progression. Cooperating ID3 loss-of-function or TCF3 activating mutations reinforce tonic B-cell-receptor and PI3K signaling and promote cyclin-D3-dependent G1-S progression.
germinal center B cell CL:0000844 Cell Ontology (CL) Relation: this pathophysiological event involves this cell type This pathophysiological event involves germinal center B cell (CL:0000844). CL:0000844 is a cell type from the Cell Ontology.
ID3 hgnc:5362 HUGO Gene Nomenclature Committee (hgnc) Relation: this pathophysiological event involves this gene This pathophysiological event involves ID3 (hgnc:5362). hgnc:5362 is a gene from the HUGO Gene Nomenclature Committee. TCF3 hgnc:11633 HUGO Gene Nomenclature Committee (hgnc) Relation: this pathophysiological event involves this gene This pathophysiological event involves TCF3 (hgnc:11633). hgnc:11633 is a gene from the HUGO Gene Nomenclature Committee. CCND3 hgnc:1585 HUGO Gene Nomenclature Committee (hgnc) Relation: this pathophysiological event involves this gene This pathophysiological event involves CCND3 (hgnc:1585). hgnc:1585 is a gene from the HUGO Gene Nomenclature Committee.
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
Downstream
High-Grade Malignancy with Rapid Tumor Growth Extremely rapid proliferation leads to aggressive clinical behavior
Show evidence (1 reference)
PMID:24492847 SUPPORT Other
"Tonic B-cell-receptor signaling sustains Burkitt lymphoma survival by engaging the PI3 kinase pathway. In addition, TCF-3 promotes cell-cycle progression by transactivating CCND3, encoding a D-type cyclin that regulates the G1-S phase transition."
This mechanistic review connects constitutive TCF3 activity to tonic BCR/PI3K survival signaling and cyclin-D3-mediated cell-cycle progression.
Apoptosis Resistance
While MYC normally sensitizes cells to apoptosis, Burkitt lymphoma cells acquire mutations or alterations that counteract MYC-induced apoptosis. Cooperating TP53 alterations and EBV-associated survival signals can counteract cell death in subsets of Burkitt lymphoma.
TP53 hgnc:11998 HUGO Gene Nomenclature Committee (hgnc) Relation: this pathophysiological event involves this gene This pathophysiological event involves TP53 (hgnc:11998). hgnc:11998 is a gene from the HUGO Gene Nomenclature Committee.
apoptotic process GO:0006915 Gene Ontology (GO) Relation: this pathophysiological event involves this biological process This pathophysiological event involves decreased apoptotic process (GO:0006915). GO:0006915 is a biological process from the Gene Ontology. ↓ DECREASED
Show evidence (1 reference)
DOI:10.3390/lymphatics1020010 SUPPORT Other
"However, the intricate genetic landscape of BL, featuring additional alterations, such as mutations in TP53, TCF3, and ID3, may necessitate a combinatorial approach targeting multiple oncogenic pathways for effective intervention."
The review identifies TP53 mutations as recurrent cooperating alterations in the Burkitt lymphoma genetic landscape.
High-Grade Malignancy with Rapid Tumor Growth
The combination of constitutive MYC-driven proliferation and apoptosis resistance results in rapidly growing tumors and aggressive clinical progression.
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
Downstream
Abdominal Mass Rapid extranodal tumor expansion can produce a clinically apparent abdominal mass.
Jaw Swelling Rapid craniofacial tumor expansion in endemic Burkitt lymphoma produces jaw swelling.
Increased Circulating Lactate Dehydrogenase High tumor burden and turnover are reflected by increased circulating LDH.
Tumor Lysis Syndrome High tumor burden and rapid cell turnover create a substantial risk of spontaneous or treatment-associated tumor lysis.
Central Nervous System Involvement Rapidly progressive Burkitt lymphoma can involve the central nervous system.
Show evidence (1 reference)
PMID:40893393 SUPPORT Human Clinical
"Burkitt lymphoma (BL) is an aggressive B-cell malignancy characterized by rapid progression and MYC gene translocations."
Abstract characterizes BL as rapidly progressive, supporting the high-grade, rapid-growth phenotype of this pathophysiology node.
✶

Histopathology

1
Aggressive B-Cell Lymphoma VERY_FREQUENT
Burkitt lymphoma is an aggressive form of B cell lymphoma.
Show evidence (1 reference)
PMID:36522349 SUPPORT
"Burkitt lymphoma (BL) is an aggressive form of B cell lymphoma that can affect"
Abstract describes Burkitt lymphoma as an aggressive B-cell lymphoma.
⬡

Pathograph

Use the checkboxes to hide or show graph categories. Hover nodes for evidence and cross-linked metadata.
Pathograph: causal mechanism network for Burkitt Lymphoma 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
Cardiovascular 1
Lymphadenopathy HP:0002716 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Lymphadenopathy (HP:0002716). HP:0002716 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:40893393 SUPPORT Human Clinical
"Jejunal involvement in BL is rare compared to more common sites like the lymph nodes and central nervous system."
The clinical report and review identify lymph nodes as a common site of Burkitt lymphoma involvement.
Digestive 1
Abdominal Mass HP:0031500 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Abdominal mass (HP:0031500). HP:0031500 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:38091052 SUPPORT Human Clinical
"In our hospital, pediatric BL was more commonly observed in school-age boys with an abdominal mass and mostly in advanced stages at initial diagnosis."
A 456-child Burkitt lymphoma cohort identifies abdominal mass as a common presentation.
Neoplasm 1
Central Nervous System Involvement OCCASIONAL Malignant neoplasm of the central nervous system HP:0100836 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Malignant neoplasm of the central nervous system (HP:0100836). HP:0100836 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:38091052 SUPPORT Human Clinical
"96 (21%) had central nervous system (CNS) disease"
CNS disease occurred in 21% of the 456-child Burkitt lymphoma cohort.
Other 4
B-Cell Lymphoma HP:0012191 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is B-cell lymphoma (HP:0012191). HP:0012191 is a phenotype from the Human Phenotype Ontology.
HP:0030080 "Burkitt lymphoma" exists and looks like the more specific binding, but it is deliberately NOT used here. HPO places HP:0030080 under HP:0012539 Non-Hodgkin lymphoma, which is a sibling of HP:0012191 B-cell lymphoma rather than a descendant of it (verified with OAK: the ancestors of HP:0030080 are Neoplasm / Lymphoma / Hematological neoplasm / Non-Hodgkin lymphoma, and HP:0012191 is not among them). Because grouping criteria are evaluated over the ontology closure, swapping to HP:0030080 would pass every validator while silently turning this entry into a NOT_SATISFIED contradiction against a HAS_PHENOTYPE HP:0012191 criterion. This looks like a genuine HPO gap — Burkitt lymphoma is unambiguously a mature B-cell neoplasm — and warrants an upstream NTR to reparent HP:0030080 under HP:0012191.
Show evidence (1 reference)
PMID:36522349 SUPPORT Human Clinical
"Burkitt lymphoma (BL) is an aggressive form of B cell lymphoma that can affect children and adults."
Directly states Burkitt lymphoma is a form of B-cell lymphoma.
Jaw Swelling HP:0030793 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Jaw swelling (HP:0030793). HP:0030793 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:19623516 SUPPORT Human Clinical
"The endemic form of this malignancy occurs primarily in children aged 5 to 7 years, and it presents with jaw and facial bone involvement."
This clinical review supports jaw involvement as a characteristic manifestation of endemic Burkitt lymphoma.
Increased Circulating Lactate Dehydrogenase FREQUENT Increased circulating lactate dehydrogenase concentration HP:0025435 Human Phenotype Ontology (HP) Relation: this clinical feature is this phenotype This clinical feature is Increased circulating lactate dehydrogenase concentration (HP:0025435). HP:0025435 is a phenotype from the Human Phenotype Ontology.
Show evidence (1 reference)
PMID:38091052 SUPPORT Human Clinical
"170 (37.2%) had lactate dehydrogenase (LDH) levels ≥ 1000 U/L at initial diagnosis, and 137 (30%) had tumor lysis syndrome."
The cohort found marked LDH elevation in 37.2% of 456 children with Burkitt lymphoma.
Tumor Lysis Syndrome FREQUENT
No exact tumor-lysis-syndrome concept exists in the current HPO snapshot, so this phenotype is intentionally left unbound pending an ontology term request. HP:0003466 is not applicable: it denotes paradoxical increased cortisol secretion on dexamethasone suppression testing.
Show evidence (1 reference)
PMID:38091052 SUPPORT Human Clinical
"170 (37.2%) had lactate dehydrogenase (LDH) levels ≥ 1000 U/L at initial diagnosis, and 137 (30%) had tumor lysis syndrome."
The cohort reports tumor lysis syndrome in 30% of 456 children with Burkitt lymphoma.
🧬

Genetic Associations

5
MYC (Somatic Translocation)
Gene: MYC hgnc:7553 HUGO Gene Nomenclature Committee (hgnc) Relation: this disease-associated gene is this gene This disease-associated gene is MYC (hgnc:7553). hgnc:7553 is a gene from the HUGO Gene Nomenclature Committee. relationship_type: SOMATIC_DRIVER
Show evidence (1 reference)
PMID:1301171 SUPPORT In Vitro
"In about 80% of Burkitt's lymphoma cases, the tumour cell harbours a reciprocal chromosomal translocation which invariably transposes the coding exons 2 and 3 of c-myc from chromosome 8 to the immunoglobulin heavy chain locus on chromosome 14."
This cell-line study documents the defining MYC-IGH translocation in most Burkitt lymphoma cases.
TP53 (Somatic Mutation)
Gene: TP53 hgnc:11998 HUGO Gene Nomenclature Committee (hgnc) Relation: this disease-associated gene is this gene This disease-associated gene is TP53 (hgnc:11998). hgnc:11998 is a gene from the HUGO Gene Nomenclature Committee. relationship_type: COOPERATING
Show evidence (1 reference)
DOI:10.3390/lymphatics1020010 SUPPORT Other
"However, the intricate genetic landscape of BL, featuring additional alterations, such as mutations in TP53, TCF3, and ID3, may necessitate a combinatorial approach targeting multiple oncogenic pathways for effective intervention."
This review identifies TP53 mutations among the additional genetic alterations in Burkitt lymphoma.
ID3 (Somatic Mutation)
Gene: ID3 hgnc:5362 HUGO Gene Nomenclature Committee (hgnc) Relation: this disease-associated gene is this gene This disease-associated gene is ID3 (hgnc:5362). hgnc:5362 is a gene from the HUGO Gene Nomenclature Committee. relationship_type: COOPERATING
Show evidence (1 reference)
PMID:24492847 SUPPORT Other
"TCF-3 is rendered constitutively active in Burkitt lymphoma by two related mechanisms: (1) somatic mutations that inactivate its negative regulator ID3, and (2) somatic mutations in TCF-3 that block the ability of ID3 to bind and interfere with its activity as a transcription factor."
This mechanistic review directly describes ID3-inactivating mutations as one route to constitutive TCF3 activity.
TCF3 (Somatic Mutation)
Gene: TCF3 hgnc:11633 HUGO Gene Nomenclature Committee (hgnc) Relation: this disease-associated gene is this gene This disease-associated gene is TCF3 (hgnc:11633). hgnc:11633 is a gene from the HUGO Gene Nomenclature Committee. relationship_type: COOPERATING
Show evidence (1 reference)
PMID:24492847 SUPPORT Other
"TCF-3 is rendered constitutively active in Burkitt lymphoma by two related mechanisms: (1) somatic mutations that inactivate its negative regulator ID3, and (2) somatic mutations in TCF-3 that block the ability of ID3 to bind and interfere with its activity as a transcription factor."
This mechanistic review directly describes TCF3 mutations that prevent its negative regulation by ID3.
CCND3 (Somatic Mutation)
Gene: CCND3 hgnc:1585 HUGO Gene Nomenclature Committee (hgnc) Relation: this disease-associated gene is this gene This disease-associated gene is CCND3 (hgnc:1585). hgnc:1585 is a gene from the HUGO Gene Nomenclature Committee. relationship_type: COOPERATING
Show evidence (1 reference)
PMID:24492847 SUPPORT Other
"CCND3 accumulates oncogenic mutations that stabilize cyclin D3 protein expression and drive proliferation."
The review directly links oncogenic CCND3 mutations to stabilized cyclin D3 and proliferation.
💊

Medical Actions

3
Intensive Chemotherapy
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. Ontology label: Chemotherapy NCIT:C15632
Intensive, short-duration chemotherapy regimens achieve high cure rates (>90% in children, 60-80% in adults). Regimens include CODOX-M/IVAC, hyper-CVAD, and DA-EPOCH-R. CNS prophylaxis is essential given high risk of CNS involvement.
Show evidence (1 reference)
PMID:36522349 SUPPORT Human Clinical
"BL can be effectively treated in children and adolescents with short durations of high dose-intensity multiagent chemotherapy regimens."
Nature Reviews Disease Primers directly supports intensive, short-duration, high-dose chemotherapy as the standard-of-care for pediatric BL.
Rituximab
Action: immunotherapyNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is immunotherapy (NCIT:C15262). NCIT:C15262 is a clinical intervention from the NCI Thesaurus. Ontology label: Immunotherapy NCIT:C15262
Agent: rituximab NCIT:C1702 NCI Thesaurus (NCIT) Relation: this treatment uses this therapeutic agent This treatment uses rituximab (NCIT:C1702). NCIT:C1702 is a therapeutic agent from the NCI Thesaurus.
Anti-CD20 monoclonal antibody added to chemotherapy improves outcomes, particularly in adults. Standard component of modern treatment regimens.
Show evidence (1 reference)
PMID:32492302 SUPPORT Human Clinical
"Rituximab added to standard LMB chemotherapy markedly prolonged event-free survival and overall survival among children and adolescents with high-grade, high-risk, mature B-cell non-Hodgkin's lymphoma"
In this randomized phase 3 trial, 85.7% of participants had Burkitt lymphoma and adding rituximab substantially improved survival outcomes.
Tumor Lysis Syndrome Prophylaxis
Action: supportive careNCI Thesaurus (NCIT) Relation: this treatment is this clinical intervention This treatment is supportive care (NCIT:C15747). NCIT:C15747 is a clinical intervention from the NCI Thesaurus. Ontology label: Supportive Care NCIT:C15747
Agent: allopurinol NCIT:C224 NCI Thesaurus (NCIT) Relation: this treatment uses this therapeutic agent This treatment uses allopurinol (NCIT:C224). NCIT:C224 is a therapeutic agent from the NCI Thesaurus. rasburicase NCIT:C2404 NCI Thesaurus (NCIT) Relation: this treatment uses this therapeutic agent This treatment uses rasburicase (NCIT:C2404). NCIT:C2404 is a therapeutic agent from the NCI Thesaurus.
Aggressive hydration, allopurinol or rasburicase, and electrolyte monitoring are essential given the extremely high risk of tumor lysis syndrome from rapid tumor cell death.
Show evidence (1 reference)
PMID:39909657 SUPPORT Other
"The Review contains specific recommendations for the identification and management of important complications of Burkitt lymphoma such as tumour lysis syndrome and CNS-oriented therapy"
The expert guideline review identifies tumor-lysis identification and management as a specific component of Burkitt lymphoma care.
🔬

Diagnosis

1
Morphology and MYC-centered diagnostic confirmation
Burkitt lymphoma diagnosis integrates tumor morphology, MYC expression or rearrangement, and B-cell immunophenotyping; extranodal cases still require tissue confirmation with lymphoma markers.
clinical assessment NCIT:C124351 NCI Thesaurus (NCIT)
Results: High-grade B-cell lymphoma morphology with high MYC expression and/or MYC translocation.
Show evidence (2 references)
PMID:36522349 SUPPORT Human Clinical
"BL is diagnosed on the basis of morphology and high expression of MYC."
The disease primer summarizes morphology and MYC expression as core diagnostic criteria.
PMID:40893393 SUPPORT Human Clinical
"Push enteroscopy with biopsy confirmed the recurrence of BL in the jejunum, with positive markers for CD45, CD20, BCL6, and c-Myc."
This case illustrates tissue confirmation with B-cell and MYC immunophenotypic markers.
📊

Prevalence

1
United States, 2000-2019
Annual Incidence 0.396 per 100,000 1–9 per 1,000,000
SEER 22 age-standardized incidence was 3.96 per million person-years, with a 2.85:1 male-to-female ratio; incidence varied by age and changed over time.
Show evidence (1 reference)
DOI:10.1002/ijc.34618 SUPPORT Human Clinical
"The age‐standardized BL incidence rate was 3.96/million person‐years, with a 2.85:1 male‐to‐female ratio."
SEER 22 directly quantifies United States Burkitt lymphoma incidence and the sex ratio during 2000-2019.
🦠

Infectious Agent

1
Epstein-Barr Virus (EBV)
EBV infection is strongly associated with endemic Burkitt lymphoma and occurs in smaller, variable fractions of other forms. EBV-positive tumors commonly show restricted latency programs, and EBV can provide survival advantages that counter MYC-associated apoptotic pressure.
Human gammaherpesvirus 4 NCBITaxon:10376 NCBI Taxonomy (NCBITaxon)
Show evidence (3 references)
PMID:7797201 SUPPORT Human Clinical
"There is a strong association (approximately 95%) of endemic Burkitt's lymphoma with Epstein-Barr virus (EBV)"
Abstract reports high EBV association in endemic Burkitt lymphoma.
DOI:10.26508/lsa.202101355 SUPPORT Model Organism
"EBV has been shown to provide a survival advantage by limiting apoptosis induced by the overexpression of MYC, and functional analysis of apoptosis-related proteins demonstrates that EBV suppresses apoptosis in multiple latency types including eBL"
This review and model-development study describes an EBV-associated survival mechanism that counteracts MYC-induced apoptosis in endemic Burkitt lymphoma.
DOI:10.3390/diagnostics13122068 SUPPORT Human Clinical
"The prevalence of Epstein–Barr virus in patients with Burkitt lymphoma was 57.5% (95% CI: 51.5 to 63.4, n = 4837)."
Meta-analysis of 135 studies directly estimates worldwide EBV prevalence among patients with Burkitt lymphoma.
📊

Related Datasets

6
Integrated genomic, transcriptional and epigenomic analyses in germinal center-cell lymphomas link the mutation landscape with differential DNA methylation in Burkitt lymphoma ega:EGAS00001001067
Biologically and clinically diverse B-cell neoplasms, including Burkitt, follicular and diffuse large B-cell lymphoma, show features of germinal center (GC) B-cells. Here we present a comprehensive analysis of the epigenetic landscape of GC-B-cell lymphomas using whole genome bisulfite sequencing paired with genome and transcriptome sequencing from 29 primary tumor samples and four normal GC-B-cell samples. All lymphomas studied showed extensive genome-wide methylation losses as well as intragenic regions where DNA methylation levels were strongly correlated with expression of associated genes.
human
European Genome-phenome Archive study, matched because the disease is named in the study's own title ("Burkitt Lymphoma"); description-level mentions were not accepted. EGA study_type: Other. Controlled access -- data require a Data Access Agreement. EGA metadata retrieved 2026-08-01.
MINCR is a MYC-induced lncRNA able to modulate MYC’s transcriptional network in Burkitt lymphoma cells ega:EGAS00001001199
Despite the established role of the transcription factor MYC in cancer, little is known about the involvement of lncRNAs in mediating MYC’s function. Here we have intersected RNA-sequencing data from MYC-inducible cell lines, from a cohort of 91 mature B-cell lymphomas and from sorted germinal-center B-cells. By this approach, we identified 13 lncRNAs differentially expressed in IG-MYC-positive Burkitt lymphoma and regulated by MYC in the model cell lines. Among them we focused on a lncRNA that we named MINCR, showing a strong correlation with MYC expression in MYC-positive lymphomas and in pancreatic ductal adenocarcinomas.
human
European Genome-phenome Archive study, matched because the disease is named in the study's own title ("Burkitt Lymphoma"); description-level mentions were not accepted. EGA study_type: Other. Controlled access -- data require a Data Access Agreement. EGA metadata retrieved 2026-08-01.
The genomic landscape of Burkitt Lymphoma ega:EGAS00001002198
As part of the ICGC, the ICGC MMML-Seq project performed whole genome sequencing and RNA sequencing of Burkitt Lymphomas . Burkitt lymphomas are the most common B-cell lymphomas in childhood. Analyses were performed in concordance with the guidelines of the ICGC. The results define the genomic landscape of structural variants, somatic single nucleotide variants and mutational signatures in these lymphomas.
human
European Genome-phenome Archive study, matched because the disease is named in the study's own title ("Burkitt Lymphoma"); description-level mentions were not accepted. EGA study_type: Other. Controlled access -- data require a Data Access Agreement. EGA metadata retrieved 2026-08-01.
HSP90 promotes Burkitt lymphoma cell survival by maintaining tonic B cell receptor signaling massive:MSV000080781
Burkitt’s lymphoma (BL) is an aggressive B-cell neoplasm that is currently treated by intensive chemotherapy in combination with anti-CD20 antibodies. Because of their toxicity, current treatment regimens are often not suitable for elderly patients or for patients in developing countries where BL is endemic. Hence, there is a need for targeted therapies. In this study, we performed a compound screen in 17 BL cell lines to identify small molecule inhibitors affecting cell survival.
Located via OmicsDI, which aggregates across omics repositories; this record comes from massive. 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 ("Burkitt Lymphoma"). Retrieved 2026-08-02.
Genomics of Endemic Burkitt Lymphoma dbgap:phs001282
This genomic landscape of Burkitt lymphoma represents a multimodal sequencing of tumors and control tissues and individuals to better understand the etiology, and molecular pathogenesis of Burkitt lymphoma including the roles of the associated Plasmodium falciparum malaria and EBV infections. Comprehensive sequencing set includes genomic, transcriptomic, and epigenomic datasets in concert with variable clinical phenotypes and outcome information such as anatomical presentation site, in-hospital survival rates, and EBV genome type.
Located via OmicsDI, which aggregates across omics repositories; this record comes from dbgap. 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 ("Burkitt Lymphoma"). Retrieved 2026-08-02.
The Genetic Landscape of Mutations in Burkitt Lymphoma dbgap:phs000562
Burkitt lymphoma (BL) is characterized by deregulation of MYC , but the contribution of other genetic mutations to the disease is largely unknown. We sequenced exomes of 59 BL tumors, 14 of which had paired normal tissue. Our work elucidates commonly occurring gene-coding mutations in Burkitt lymphoma and implicates ID3 as a novel tumor suppressor gene.
Located via OmicsDI, which aggregates across omics repositories; this record comes from dbgap. 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 ("Burkitt Lymphoma"). Retrieved 2026-08-02.
{ }

Source YAML

click to show 
name: Burkitt Lymphoma
creation_date: '2026-01-26T02:55:13Z'
description: >-
  Burkitt lymphoma is a highly aggressive B-cell non-Hodgkin lymphoma characterized
  by MYC oncogene translocation, typically t(8;14)(q24;q32) involving the immunoglobulin
  heavy chain locus. Three clinical variants exist: endemic (African), sporadic, and
  immunodeficiency-associated. Endemic Burkitt lymphoma is strongly associated with
  Epstein-Barr virus (EBV) infection and commonly presents as jaw tumors in children
  in malaria-endemic regions. The disease exemplifies the role of MYC dysregulation
  in driving exceptionally rapid cell proliferation and clinical progression.
categories:
- Hematologic Malignancy
- B-Cell Lymphoma
- Virus-Associated Cancer
parents:
- non-Hodgkin lymphoma
prevalence:
- population: United States, 2000-2019
  measure_type: ANNUAL_INCIDENCE
  prevalence_class: BAND_1_9_PER_1000000
  rate_per_100000: 0.396
  notes: >-
    SEER 22 age-standardized incidence was 3.96 per million person-years, with a
    2.85:1 male-to-female ratio; incidence varied by age and changed over time.
  evidence:
  - reference: DOI:10.1002/ijc.34618
    reference_title: Incidence of Burkitt lymphoma in the United States during 2000 to 2019
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The age‐standardized BL incidence rate was 3.96/million person‐years, with a 2.85:1 male‐to‐female ratio."
    explanation: SEER 22 directly quantifies United States Burkitt lymphoma incidence and the sex ratio during 2000-2019.
has_subtypes:
- name: Endemic Burkitt Lymphoma
  description: >-
    African variant strongly associated with EBV infection (approximately 95%),
    occurring predominantly in children in equatorial Africa. Classically presents
    as jaw or facial tumors. Geographic distribution correlates with malaria
    endemicity, suggesting chronic immune activation as a cofactor.
  evidence:
  - reference: DOI:10.1182/blood.2019004099
    reference_title: The treatment of Burkitt lymphoma in adults
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Burkitt lymphoma (BL) is a highly aggressive, B-cell, non-Hodgkin lymphoma categorized into endemic, sporadic, and immunodeficiency-associated subtypes.
    explanation: This treatment review explicitly recognizes endemic BL as one of the three clinical-epidemiologic subtypes.
  - reference: PMID:7797201
    reference_title: "A study of the association of Epstein-Barr virus with Burkitt's lymphoma occurring in a Chinese population."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "There is a strong association (approximately 95%) of endemic Burkitt's lymphoma with Epstein-Barr virus (EBV)"
    explanation: The abstract directly quantifies the strong EBV association in endemic Burkitt lymphoma.
- name: Sporadic Burkitt Lymphoma
  description: >-
    Occurs worldwide without geographic restriction. Less commonly EBV-associated
    than endemic disease and commonly presents with abdominal involvement. It
    affects children, adolescents, and adults.
  evidence:
  - reference: DOI:10.1182/blood.2019004099
    reference_title: The treatment of Burkitt lymphoma in adults
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Burkitt lymphoma (BL) is a highly aggressive, B-cell, non-Hodgkin lymphoma categorized into endemic, sporadic, and immunodeficiency-associated subtypes.
    explanation: This treatment review explicitly recognizes sporadic BL as one of the three clinical-epidemiologic subtypes.
- name: Immunodeficiency-Associated Burkitt Lymphoma
  description: >-
    Occurs in patients with HIV/AIDS or other immunodeficiency states. EBV
    association is variable. Management must address both the lymphoma and the
    underlying immunodeficiency.
  evidence:
  - reference: DOI:10.1182/blood.2019004099
    reference_title: The treatment of Burkitt lymphoma in adults
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Burkitt lymphoma (BL) is a highly aggressive, B-cell, non-Hodgkin lymphoma categorized into endemic, sporadic, and immunodeficiency-associated subtypes.
    explanation: This treatment review explicitly recognizes immunodeficiency-associated BL as one of the three clinical-epidemiologic subtypes.
infectious_agent:
- name: Epstein-Barr Virus (EBV)
  infectious_agent_term:
    preferred_term: Human gammaherpesvirus 4
    term:
      id: NCBITaxon:10376
      label: Human gammaherpesvirus 4
  description: >-
    EBV infection is strongly associated with endemic Burkitt lymphoma and occurs
    in smaller, variable fractions of other forms. EBV-positive tumors commonly
    show restricted latency programs, and EBV can provide survival advantages that
    counter MYC-associated apoptotic pressure.
  evidence:
  - reference: PMID:7797201
    reference_title: "A study of the association of Epstein-Barr virus with Burkitt's lymphoma occurring in a Chinese population."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "There is a strong association (approximately 95%) of endemic Burkitt's lymphoma with Epstein-Barr virus (EBV)"
    explanation: "Abstract reports high EBV association in endemic Burkitt lymphoma."
  - reference: DOI:10.26508/lsa.202101355
    reference_title: Endemic Burkitt lymphoma avatar mouse models for exploring inter-patient tumor variation and testing targeted therapies
    supports: SUPPORT
    evidence_source: MODEL_ORGANISM
    snippet: EBV has been shown to provide a survival advantage by limiting apoptosis induced by the overexpression of MYC, and functional analysis of apoptosis-related proteins demonstrates that EBV suppresses apoptosis in multiple latency types including eBL
    explanation: This review and model-development study describes an EBV-associated survival mechanism that counteracts MYC-induced apoptosis in endemic Burkitt lymphoma.
  - reference: DOI:10.3390/diagnostics13122068
    reference_title: "Worldwide Prevalence of Epstein–Barr Virus in Patients with Burkitt Lymphoma: A Systematic Review and Meta-Analysis"
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "The prevalence of Epstein–Barr virus in patients with Burkitt lymphoma was 57.5% (95% CI: 51.5 to 63.4, n = 4837)."
    explanation: Meta-analysis of 135 studies directly estimates worldwide EBV prevalence among patients with Burkitt lymphoma.
pathophysiology:
- name: MYC Translocation and Oncogene Activation
  description: >-
    The hallmark of Burkitt lymphoma is translocation of the MYC oncogene on
    chromosome 8 to an immunoglobulin locus, most commonly t(8;14)(q24;q32)
    involving the IGH locus, or less commonly t(2;8) or t(8;22) involving
    light chain loci. This places MYC under control of immunoglobulin enhancers,
    resulting in constitutive MYC overexpression.
  evidence:
  - reference: PMID:40893393
    reference_title: "Navigating Rare Presentations: Recurrent Burkitt Lymphoma Presenting as a Jejunal Mass."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Burkitt lymphoma (BL) is an aggressive B-cell malignancy characterized by rapid progression and MYC gene translocations."
    explanation: This abstract directly identifies MYC translocations as a defining feature of Burkitt lymphoma.
  - reference: PMID:1301171
    reference_title: "Variable breakpoints in Burkitt lymphoma cells with chromosomal t(8;14) translocation separate c-myc and the IgH locus up to several hundred kb."
    supports: SUPPORT
    evidence_source: IN_VITRO
    snippet: "In about 80% of Burkitt's lymphoma cases, the tumour cell harbours a reciprocal chromosomal translocation which invariably transposes the coding exons 2 and 3 of c-myc from chromosome 8 to the immunoglobulin heavy chain locus on chromosome 14."
    explanation: "Abstract reports MYC translocation to immunoglobulin loci in most Burkitt lymphoma cases."
  genes:
  - preferred_term: MYC
    term:
      id: hgnc:7553
      label: MYC
  cell_types:
  - preferred_term: germinal center B cell
    term:
      id: CL:0000844
      label: germinal center B cell
  biological_processes:
  - preferred_term: positive regulation of transcription by RNA polymerase II
    modifier: INCREASED
    term:
      id: GO:0045944
      label: positive regulation of transcription by RNA polymerase II
  downstream:
  - target: Uncontrolled B-Cell Proliferation
    description: MYC drives cell cycle entry and proliferation
    evidence:
    - reference: DOI:10.3390/lymphatics1020010
      reference_title: "Translocation Tales: Unraveling the MYC Deregulation in Burkitt Lymphoma for Innovative Therapeutic Strategies"
      supports: SUPPORT
      evidence_source: OTHER
      snippet: The t(8;14)(q24;q32) chromosomal translocation commonly observed in hematological malignancies results in MYC deregulation, endowing cancer cells with a competitive edge through heightened cell proliferation, cell cycle progression, apoptosis evasion, and metabolic reprogramming.
      explanation: The review directly links MYC deregulation caused by t(8;14) to increased proliferation and cell-cycle progression.
  - target: Apoptosis Resistance
    description: MYC cooperates with anti-apoptotic signals to enable tumor cell survival
    evidence:
    - reference: DOI:10.3390/lymphatics1020010
      reference_title: "Translocation Tales: Unraveling the MYC Deregulation in Burkitt Lymphoma for Innovative Therapeutic Strategies"
      supports: SUPPORT
      evidence_source: OTHER
      snippet: The t(8;14)(q24;q32) chromosomal translocation commonly observed in hematological malignancies results in MYC deregulation, endowing cancer cells with a competitive edge through heightened cell proliferation, cell cycle progression, apoptosis evasion, and metabolic reprogramming.
      explanation: The review includes apoptosis evasion among the consequences of translocation-driven MYC deregulation.
- name: Uncontrolled B-Cell Proliferation
  description: >-
    Constitutive MYC activity drives cell-cycle progression. Cooperating ID3
    loss-of-function or TCF3 activating mutations reinforce tonic B-cell-receptor
    and PI3K signaling and promote cyclin-D3-dependent G1-S progression.
  evidence:
  - reference: PMID:24492847
    reference_title: Oncogenic mechanisms in Burkitt lymphoma.
    supports: SUPPORT
    evidence_source: OTHER
    snippet: Tonic B-cell-receptor signaling sustains Burkitt lymphoma survival by engaging the PI3 kinase pathway. In addition, TCF-3 promotes cell-cycle progression by transactivating CCND3, encoding a D-type cyclin that regulates the G1-S phase transition.
    explanation: This mechanistic review connects constitutive TCF3 activity to tonic BCR/PI3K survival signaling and cyclin-D3-mediated cell-cycle progression.
  genes:
  - preferred_term: ID3
    term:
      id: hgnc:5362
      label: ID3
  - preferred_term: TCF3
    term:
      id: hgnc:11633
      label: TCF3
  - preferred_term: CCND3
    term:
      id: hgnc:1585
      label: CCND3
  cell_types:
  - preferred_term: germinal center B cell
    term:
      id: CL:0000844
      label: germinal center B cell
  biological_processes:
  - preferred_term: cell population proliferation
    modifier: INCREASED
    term:
      id: GO:0008283
      label: cell population proliferation
  downstream:
  - target: High-Grade Malignancy with Rapid Tumor Growth
    description: Extremely rapid proliferation leads to aggressive clinical behavior
    evidence:
    - reference: DOI:10.3390/lymphatics1020010
      reference_title: "Translocation Tales: Unraveling the MYC Deregulation in Burkitt Lymphoma for Innovative Therapeutic Strategies"
      supports: SUPPORT
      evidence_source: OTHER
      snippet: The t(8;14)(q24;q32) chromosomal translocation commonly observed in hematological malignancies results in MYC deregulation, endowing cancer cells with a competitive edge through heightened cell proliferation, cell cycle progression, apoptosis evasion, and metabolic reprogramming.
      explanation: The review supports the proliferative program that produces the aggressive tumor-growth phenotype.
- name: Apoptosis Resistance
  description: >-
    While MYC normally sensitizes cells to apoptosis, Burkitt lymphoma cells
    acquire mutations or alterations that counteract MYC-induced apoptosis.
    Cooperating TP53 alterations and EBV-associated survival signals can
    counteract cell death in subsets of Burkitt lymphoma.
  evidence:
  - reference: DOI:10.3390/lymphatics1020010
    reference_title: "Translocation Tales: Unraveling the MYC Deregulation in Burkitt Lymphoma for Innovative Therapeutic Strategies"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: However, the intricate genetic landscape of BL, featuring additional alterations, such as mutations in TP53, TCF3, and ID3, may necessitate a combinatorial approach targeting multiple oncogenic pathways for effective intervention.
    explanation: The review identifies TP53 mutations as recurrent cooperating alterations in the Burkitt lymphoma genetic landscape.
  genes:
  - preferred_term: TP53
    term:
      id: hgnc:11998
      label: TP53
  biological_processes:
  - preferred_term: apoptotic process
    modifier: DECREASED
    term:
      id: GO:0006915
      label: apoptotic process
- name: High-Grade Malignancy with Rapid Tumor Growth
  description: >-
    The combination of constitutive MYC-driven proliferation and apoptosis
    resistance results in rapidly growing tumors and aggressive clinical
    progression.
  evidence:
  - reference: PMID:40893393
    reference_title: "Navigating Rare Presentations: Recurrent Burkitt Lymphoma Presenting as a Jejunal Mass."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Burkitt lymphoma (BL) is an aggressive B-cell malignancy characterized by rapid progression and MYC gene translocations."
    explanation: Abstract characterizes BL as rapidly progressive, supporting the high-grade, rapid-growth phenotype of this pathophysiology node.
  biological_processes:
  - preferred_term: cell population proliferation
    modifier: INCREASED
    term:
      id: GO:0008283
      label: cell population proliferation
  downstream:
  - target: Abdominal Mass
    description: Rapid extranodal tumor expansion can produce a clinically apparent abdominal mass.
    evidence:
    - reference: PMID:38091052
      reference_title: Optimal dosage of rituximab for children with Burkitt lymphoma.
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: In our hospital, pediatric BL was more commonly observed in school-age boys with an abdominal mass and mostly in advanced stages at initial diagnosis.
      explanation: A 456-child Burkitt lymphoma cohort identifies abdominal mass as a common clinical manifestation.
  - target: Jaw Swelling
    description: Rapid craniofacial tumor expansion in endemic Burkitt lymphoma produces jaw swelling.
    evidence:
    - reference: PMID:19623516
      reference_title: "Adult Burkitt lymphoma originating in the sphenoid sinus: case report and review of the literature."
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: The endemic form of this malignancy occurs primarily in children aged 5 to 7 years, and it presents with jaw and facial bone involvement.
      explanation: This clinical review supports jaw involvement as a characteristic manifestation of endemic Burkitt lymphoma.
  - target: Increased Circulating Lactate Dehydrogenase
    description: High tumor burden and turnover are reflected by increased circulating LDH.
    evidence:
    - reference: PMID:38091052
      reference_title: Optimal dosage of rituximab for children with Burkitt lymphoma.
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: "170 (37.2%) had lactate dehydrogenase (LDH) levels ≥ 1000 U/L at initial diagnosis, and 137 (30%) had tumor lysis syndrome."
      explanation: The pediatric cohort quantifies marked LDH elevation at diagnosis.
  - target: Tumor Lysis Syndrome
    description: High tumor burden and rapid cell turnover create a substantial risk of spontaneous or treatment-associated tumor lysis.
    evidence:
    - reference: PMID:39909657
      reference_title: "Diagnosis and treatment of Burkitt lymphoma in adults: clinical practice guidelines from ERN-EuroBloodNet."
      supports: SUPPORT
      evidence_source: OTHER
      snippet: Burkitt lymphoma remains an area of clinical and biological research with specificities due to the high incidence of CNS involvement and tumour lysis syndrome in patients with a high tumour burden.
      explanation: The clinical guideline review directly links high tumor burden in Burkitt lymphoma to tumor lysis syndrome.
  - target: Central Nervous System Involvement
    description: Rapidly progressive Burkitt lymphoma can involve the central nervous system.
    evidence:
    - reference: PMID:38091052
      reference_title: Optimal dosage of rituximab for children with Burkitt lymphoma.
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: "96 (21%) had central nervous system (CNS) disease"
      explanation: CNS disease occurred in 21% of the 456-child Burkitt lymphoma cohort.
histopathology:
- name: Aggressive B-Cell Lymphoma
  finding_term:
    preferred_term: Aggressive B-Cell Non-Hodgkin Lymphoma
    term:
      id: NCIT:C178541
      label: Aggressive B-Cell Non-Hodgkin Lymphoma
  frequency: VERY_FREQUENT
  description: Burkitt lymphoma is an aggressive form of B cell lymphoma.
  evidence:
  - reference: PMID:36522349
    reference_title: "Burkitt lymphoma."
    supports: SUPPORT
    snippet: "Burkitt lymphoma (BL) is an aggressive form of B cell lymphoma that can affect"
    explanation: Abstract describes Burkitt lymphoma as an aggressive B-cell lymphoma.

phenotypes:
- category: Neoplastic
  name: B-Cell Lymphoma
  description: >-
    Burkitt lymphoma is an aggressive neoplasm of mature B lymphocytes and is
    classified as a B-cell non-Hodgkin lymphoma.
  phenotype_term:
    preferred_term: B-cell lymphoma
    term:
      id: HP:0012191
      label: B-cell lymphoma
  evidence:
  - reference: PMID:36522349
    reference_title: "Burkitt lymphoma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: >-
      Burkitt lymphoma (BL) is an aggressive form of B cell lymphoma that can
      affect children and adults.
    explanation: Directly states Burkitt lymphoma is a form of B-cell lymphoma.
  notes: >-
    HP:0030080 "Burkitt lymphoma" exists and looks like the more specific
    binding, but it is deliberately NOT used here. HPO places HP:0030080 under
    HP:0012539 Non-Hodgkin lymphoma, which is a sibling of HP:0012191 B-cell
    lymphoma rather than a descendant of it (verified with OAK: the ancestors of
    HP:0030080 are Neoplasm / Lymphoma / Hematological neoplasm / Non-Hodgkin
    lymphoma, and HP:0012191 is not among them). Because grouping criteria are
    evaluated over the ontology closure, swapping to HP:0030080 would pass every
    validator while silently turning this entry into a NOT_SATISFIED
    contradiction against a HAS_PHENOTYPE HP:0012191 criterion. This looks like a
    genuine HPO gap — Burkitt lymphoma is unambiguously a mature B-cell neoplasm
    — and warrants an upstream NTR to reparent HP:0030080 under HP:0012191.
- category: Abdominal
  name: Abdominal Mass
  description: >-
    Rapidly enlarging abdominal disease is a common presentation of pediatric
    and sporadic Burkitt lymphoma.
  phenotype_term:
    preferred_term: Abdominal mass
    term:
      id: HP:0031500
      label: Abdominal mass
  evidence:
  - reference: PMID:38091052
    reference_title: Optimal dosage of rituximab for children with Burkitt lymphoma.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: In our hospital, pediatric BL was more commonly observed in school-age boys with an abdominal mass and mostly in advanced stages at initial diagnosis.
    explanation: A 456-child Burkitt lymphoma cohort identifies abdominal mass as a common presentation.
- category: Head and Neck
  name: Jaw Swelling
  description: >-
    Jaw and facial-bone involvement is a characteristic presentation of endemic
    Burkitt lymphoma in children.
  phenotype_term:
    preferred_term: Jaw swelling
    term:
      id: HP:0030793
      label: Jaw swelling
  evidence:
  - reference: PMID:19623516
    reference_title: "Adult Burkitt lymphoma originating in the sphenoid sinus: case report and review of the literature."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: The endemic form of this malignancy occurs primarily in children aged 5 to 7 years, and it presents with jaw and facial bone involvement.
    explanation: This clinical review supports jaw involvement as a characteristic manifestation of endemic Burkitt lymphoma.
- category: Laboratory
  name: Increased Circulating Lactate Dehydrogenase
  frequency: FREQUENT
  description: >-
    Marked LDH elevation is a measurable correlate of high tumor burden and
    rapid tumor turnover.
  phenotype_term:
    preferred_term: Increased circulating lactate dehydrogenase concentration
    term:
      id: HP:0025435
      label: Increased circulating lactate dehydrogenase concentration
  evidence:
  - reference: PMID:38091052
    reference_title: Optimal dosage of rituximab for children with Burkitt lymphoma.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "170 (37.2%) had lactate dehydrogenase (LDH) levels ≥ 1000 U/L at initial diagnosis, and 137 (30%) had tumor lysis syndrome."
    explanation: The cohort found marked LDH elevation in 37.2% of 456 children with Burkitt lymphoma.
- category: Metabolic
  name: Tumor Lysis Syndrome
  frequency: FREQUENT
  description: >-
    High tumor burden and rapid cell turnover confer a substantial risk of tumor
    lysis syndrome, including at initial presentation and after therapy begins.
  notes: >-
    No exact tumor-lysis-syndrome concept exists in the current HPO snapshot, so
    this phenotype is intentionally left unbound pending an ontology term request.
    HP:0003466 is not applicable: it denotes paradoxical increased cortisol
    secretion on dexamethasone suppression testing.
  evidence:
  - reference: PMID:38091052
    reference_title: Optimal dosage of rituximab for children with Burkitt lymphoma.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "170 (37.2%) had lactate dehydrogenase (LDH) levels ≥ 1000 U/L at initial diagnosis, and 137 (30%) had tumor lysis syndrome."
    explanation: The cohort reports tumor lysis syndrome in 30% of 456 children with Burkitt lymphoma.
- category: Neurologic
  name: Central Nervous System Involvement
  frequency: OCCASIONAL
  description: >-
    Burkitt lymphoma can involve the central nervous system at diagnosis and
    requires CNS-oriented risk assessment and therapy.
  phenotype_term:
    preferred_term: Malignant neoplasm of the central nervous system
    term:
      id: HP:0100836
      label: Malignant neoplasm of the central nervous system
  evidence:
  - reference: PMID:38091052
    reference_title: Optimal dosage of rituximab for children with Burkitt lymphoma.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "96 (21%) had central nervous system (CNS) disease"
    explanation: CNS disease occurred in 21% of the 456-child Burkitt lymphoma cohort.
- category: Lymphatic
  name: Lymphadenopathy
  description: Lymph-node involvement is a common anatomic presentation of Burkitt lymphoma.
  phenotype_term:
    preferred_term: Lymphadenopathy
    term:
      id: HP:0002716
      label: Lymphadenopathy
  evidence:
  - reference: PMID:40893393
    reference_title: "Navigating Rare Presentations: Recurrent Burkitt Lymphoma Presenting as a Jejunal Mass."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Jejunal involvement in BL is rare compared to more common sites like the lymph nodes and central nervous system."
    explanation: The clinical report and review identify lymph nodes as a common site of Burkitt lymphoma involvement.
genetic:
- name: MYC
  association: Somatic Translocation
  relationship_type: SOMATIC_DRIVER
  gene_term:
    preferred_term: MYC
    term:
      id: hgnc:7553
      label: MYC
  notes: >-
    MYC translocation to immunoglobulin loci is the defining genetic abnormality.
    t(8;14)(q24;q32) involving IGH occurs in ~80% of cases. t(2;8) involving
    IGK and t(8;22) involving IGL occur in the remainder. MYC overexpression
    drives the malignant phenotype.
  evidence:
  - reference: PMID:1301171
    reference_title: "Variable breakpoints in Burkitt lymphoma cells with chromosomal t(8;14) translocation separate c-myc and the IgH locus up to several hundred kb."
    supports: SUPPORT
    evidence_source: IN_VITRO
    snippet: "In about 80% of Burkitt's lymphoma cases, the tumour cell harbours a reciprocal chromosomal translocation which invariably transposes the coding exons 2 and 3 of c-myc from chromosome 8 to the immunoglobulin heavy chain locus on chromosome 14."
    explanation: This cell-line study documents the defining MYC-IGH translocation in most Burkitt lymphoma cases.
- name: TP53
  association: Somatic Mutation
  relationship_type: COOPERATING
  gene_term:
    preferred_term: TP53
    term:
      id: hgnc:11998
      label: TP53
  notes: >-
    TP53 is among the recurrent cooperating somatic alterations in Burkitt
    lymphoma; loss of p53 pathway function can facilitate survival under
    oncogenic stress.
  evidence:
  - reference: DOI:10.3390/lymphatics1020010
    reference_title: "Translocation Tales: Unraveling the MYC Deregulation in Burkitt Lymphoma for Innovative Therapeutic Strategies"
    supports: SUPPORT
    evidence_source: OTHER
    snippet: However, the intricate genetic landscape of BL, featuring additional alterations, such as mutations in TP53, TCF3, and ID3, may necessitate a combinatorial approach targeting multiple oncogenic pathways for effective intervention.
    explanation: This review identifies TP53 mutations among the additional genetic alterations in Burkitt lymphoma.
- name: ID3
  association: Somatic Mutation
  relationship_type: COOPERATING
  gene_term:
    preferred_term: ID3
    term:
      id: hgnc:5362
      label: ID3
  notes: >-
    Inactivating ID3 mutations release TCF3 from negative regulation, promoting
    tonic B-cell-receptor and PI3K survival signaling.
  evidence:
  - reference: PMID:24492847
    reference_title: Oncogenic mechanisms in Burkitt lymphoma.
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "TCF-3 is rendered constitutively active in Burkitt lymphoma by two related mechanisms: (1) somatic mutations that inactivate its negative regulator ID3, and (2) somatic mutations in TCF-3 that block the ability of ID3 to bind and interfere with its activity as a transcription factor."
    explanation: This mechanistic review directly describes ID3-inactivating mutations as one route to constitutive TCF3 activity.
- name: TCF3
  association: Somatic Mutation
  relationship_type: COOPERATING
  gene_term:
    preferred_term: TCF3
    term:
      id: hgnc:11633
      label: TCF3
  notes: >-
    TCF3 mutations can prevent ID3-mediated inhibition, sustaining tonic
    B-cell-receptor signaling and cyclin-D3-mediated cell-cycle progression.
  evidence:
  - reference: PMID:24492847
    reference_title: Oncogenic mechanisms in Burkitt lymphoma.
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "TCF-3 is rendered constitutively active in Burkitt lymphoma by two related mechanisms: (1) somatic mutations that inactivate its negative regulator ID3, and (2) somatic mutations in TCF-3 that block the ability of ID3 to bind and interfere with its activity as a transcription factor."
    explanation: This mechanistic review directly describes TCF3 mutations that prevent its negative regulation by ID3.
- name: CCND3
  association: Somatic Mutation
  relationship_type: COOPERATING
  gene_term:
    preferred_term: CCND3
    term:
      id: hgnc:1585
      label: CCND3
  notes: >-
    Oncogenic CCND3 mutations stabilize cyclin D3 and cooperate with the
    ID3-TCF3 program to drive cell-cycle progression.
  evidence:
  - reference: PMID:24492847
    reference_title: Oncogenic mechanisms in Burkitt lymphoma.
    supports: SUPPORT
    evidence_source: OTHER
    snippet: "CCND3 accumulates oncogenic mutations that stabilize cyclin D3 protein expression and drive proliferation."
    explanation: The review directly links oncogenic CCND3 mutations to stabilized cyclin D3 and proliferation.
diagnosis:
- name: Morphology and MYC-centered diagnostic confirmation
  description: >-
    Burkitt lymphoma diagnosis integrates tumor morphology, MYC expression or
    rearrangement, and B-cell immunophenotyping; extranodal cases still require
    tissue confirmation with lymphoma markers.
  diagnosis_term:
    preferred_term: clinical assessment
    term:
      id: NCIT:C124351
      label: Clinical Evaluation
  results: High-grade B-cell lymphoma morphology with high MYC expression and/or MYC translocation.
  evidence:
  - reference: PMID:36522349
    reference_title: "Burkitt lymphoma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "BL is diagnosed on the basis of morphology and high expression of MYC."
    explanation: The disease primer summarizes morphology and MYC expression as core diagnostic criteria.
  - reference: PMID:40893393
    reference_title: "Navigating Rare Presentations: Recurrent Burkitt Lymphoma Presenting as a Jejunal Mass."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "Push enteroscopy with biopsy confirmed the recurrence of BL in the jejunum, with positive markers for CD45, CD20, BCL6, and c-Myc."
    explanation: This case illustrates tissue confirmation with B-cell and MYC immunophenotypic markers.
treatments:
- name: Intensive Chemotherapy
  description: >-
    Intensive, short-duration chemotherapy regimens achieve high cure rates
    (>90% in children, 60-80% in adults). Regimens include CODOX-M/IVAC,
    hyper-CVAD, and DA-EPOCH-R. CNS prophylaxis is essential given high
    risk of CNS involvement.
  evidence:
  - reference: PMID:36522349
    reference_title: "Burkitt lymphoma."
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: "BL can be effectively treated in children and adolescents with short durations of high dose-intensity multiagent chemotherapy regimens."
    explanation: Nature Reviews Disease Primers directly supports intensive, short-duration, high-dose chemotherapy as the standard-of-care for pediatric BL.
  treatment_term:
    preferred_term: chemotherapy
    term:
      id: NCIT:C15632
      label: Chemotherapy
- name: Rituximab
  description: >-
    Anti-CD20 monoclonal antibody added to chemotherapy improves outcomes,
    particularly in adults. Standard component of modern treatment regimens.
  treatment_term:
    preferred_term: immunotherapy
    term:
      id: NCIT:C15262
      label: Immunotherapy
    therapeutic_agent:
    - preferred_term: rituximab
      term:
        id: NCIT:C1702
        label: Rituximab
  evidence:
  - reference: PMID:32492302
    reference_title: Rituximab for High-Risk, Mature B-Cell Non-Hodgkin's Lymphoma in Children.
    supports: SUPPORT
    evidence_source: HUMAN_CLINICAL
    snippet: Rituximab added to standard LMB chemotherapy markedly prolonged event-free survival and overall survival among children and adolescents with high-grade, high-risk, mature B-cell non-Hodgkin's lymphoma
    explanation: In this randomized phase 3 trial, 85.7% of participants had Burkitt lymphoma and adding rituximab substantially improved survival outcomes.
- name: Tumor Lysis Syndrome Prophylaxis
  description: >-
    Aggressive hydration, allopurinol or rasburicase, and electrolyte monitoring
    are essential given the extremely high risk of tumor lysis syndrome from
    rapid tumor cell death.
  treatment_term:
    preferred_term: supportive care
    term:
      id: NCIT:C15747
      label: Supportive Care
    therapeutic_agent:
    - preferred_term: allopurinol
      term:
        id: NCIT:C224
        label: Allopurinol
    - preferred_term: rasburicase
      term:
        id: NCIT:C2404
        label: Rasburicase
  evidence:
  - reference: PMID:39909657
    reference_title: "Diagnosis and treatment of Burkitt lymphoma in adults: clinical practice guidelines from ERN-EuroBloodNet."
    supports: SUPPORT
    evidence_source: OTHER
    snippet: The Review contains specific recommendations for the identification and management of important complications of Burkitt lymphoma such as tumour lysis syndrome and CNS-oriented therapy
    explanation: The expert guideline review identifies tumor-lysis identification and management as a specific component of Burkitt lymphoma care.
disease_term:
  preferred_term: Burkitt lymphoma
  term:
    id: MONDO:0007243
    label: Burkitt lymphoma

classifications:
  icdo_morphology:
    classification_value: Lymphoma
  harrisons_chapter:
  - classification_value: ONCOLOGY_HEMATOLOGY
references:
- reference: DOI:10.1002/ijc.34618
  title: Incidence of Burkitt lymphoma in the United States during 2000 to 2019
  found_in:
  - Burkitt_Lymphoma-deep-research-falcon.md
  findings:
  - statement: Burkitt lymphoma (BL) is an aggressive B‐cell lymphoma that occurs worldwide.
    supporting_text: Burkitt lymphoma (BL) is an aggressive B‐cell lymphoma that occurs worldwide.
    evidence:
    - reference: DOI:10.1002/ijc.34618
      reference_title: Incidence of Burkitt lymphoma in the United States during 2000 to 2019
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Burkitt lymphoma (BL) is an aggressive B‐cell lymphoma that occurs worldwide.
      explanation: Deep research cited this publication as relevant literature for Burkitt Lymphoma.
- reference: DOI:10.1002/path.6246
  title: 'The fifth edition of the WHO classification of mature B‐cell neoplasms: open questions for research'
  found_in:
  - Burkitt_Lymphoma-deep-research-falcon.md
  findings:
  - statement: The fifth edition of the World Health Organization Classification of Haematolymphoid Tumours (WHO‐HAEM5) is the product of an evidence‐based evolution of the revised fourth edition with wide multidisciplinary consultation.
    supporting_text: The fifth edition of the World Health Organization Classification of Haematolymphoid Tumours (WHO‐HAEM5) is the product of an evidence‐based evolution of the revised fourth edition with wide multidisciplinary consultation.
    evidence:
    - reference: DOI:10.1002/path.6246
      reference_title: 'The fifth edition of the WHO classification of mature B‐cell neoplasms: open questions for research'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: The fifth edition of the World Health Organization Classification of Haematolymphoid Tumours (WHO‐HAEM5) is the product of an evidence‐based evolution of the revised fourth edition with wide multidisciplinary consultation.
      explanation: Deep research cited this publication as relevant literature for Burkitt Lymphoma.
- reference: DOI:10.1182/blood.2019004099
  title: The treatment of Burkitt lymphoma in adults
  found_in:
  - Burkitt_Lymphoma-deep-research-falcon.md
  findings:
  - statement: Burkitt lymphoma (BL) is a highly aggressive, B-cell, non-Hodgkin lymphoma categorized into endemic, sporadic, and immunodeficiency-associated subtypes.
    supporting_text: Burkitt lymphoma (BL) is a highly aggressive, B-cell, non-Hodgkin lymphoma categorized into endemic, sporadic, and immunodeficiency-associated subtypes.
    evidence:
    - reference: DOI:10.1182/blood.2019004099
      reference_title: The treatment of Burkitt lymphoma in adults
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Burkitt lymphoma (BL) is a highly aggressive, B-cell, non-Hodgkin lymphoma categorized into endemic, sporadic, and immunodeficiency-associated subtypes.
      explanation: Deep research cited this publication as relevant literature for Burkitt Lymphoma.
- reference: DOI:10.26508/lsa.202101355
  title: Endemic Burkitt lymphoma avatar mouse models for exploring inter-patient tumor variation and testing targeted therapies
  found_in:
  - Burkitt_Lymphoma-deep-research-falcon.md
  findings:
  - statement: Endemic Burkitt lymphoma (BL) is a childhood cancer in sub-Saharan Africa characterized by Epstein–Barr virus and malaria-associated aberrant B-cell activation andMYCchromosomal translocation.
    supporting_text: Endemic Burkitt lymphoma (BL) is a childhood cancer in sub-Saharan Africa characterized by Epstein–Barr virus and malaria-associated aberrant B-cell activation andMYCchromosomal translocation.
    evidence:
    - reference: DOI:10.26508/lsa.202101355
      reference_title: Endemic Burkitt lymphoma avatar mouse models for exploring inter-patient tumor variation and testing targeted therapies
      supports: SUPPORT
      evidence_source: MODEL_ORGANISM
      snippet: Endemic Burkitt lymphoma (BL) is a childhood cancer in sub-Saharan Africa characterized by Epstein–Barr virus and malaria-associated aberrant B-cell activation andMYCchromosomal translocation.
      explanation: Deep research cited this publication as relevant literature for Burkitt Lymphoma.
- reference: DOI:10.3390/diagnostics13122068
  title: 'Worldwide Prevalence of Epstein–Barr Virus in Patients with Burkitt Lymphoma: A Systematic Review and Meta-Analysis'
  found_in:
  - Burkitt_Lymphoma-deep-research-falcon.md
  findings:
  - statement: Burkitt lymphoma (BL) is a form of B-cell malignancy that progresses aggressively and is most often seen in children.
    supporting_text: Burkitt lymphoma (BL) is a form of B-cell malignancy that progresses aggressively and is most often seen in children.
    evidence:
    - reference: DOI:10.3390/diagnostics13122068
      reference_title: 'Worldwide Prevalence of Epstein–Barr Virus in Patients with Burkitt Lymphoma: A Systematic Review and Meta-Analysis'
      supports: SUPPORT
      evidence_source: HUMAN_CLINICAL
      snippet: Burkitt lymphoma (BL) is a form of B-cell malignancy that progresses aggressively and is most often seen in children.
      explanation: Deep research cited this publication as relevant literature for Burkitt Lymphoma.
- reference: DOI:10.3390/ijms252313213
  title: A Diagnostic Approach in Large B-Cell Lymphomas According to the Fifth World Health Organization and International Consensus Classifications and a Practical Algorithm in Routine Practice
  found_in:
  - Burkitt_Lymphoma-deep-research-falcon.md
  findings:
  - statement: In this article, we provide a review of large B-cell lymphomas (LBCLs), comparing the recently published fifth edition of the WHO classification and the International Consensus Classification (ICC) on hematolymphoid tumors.
    supporting_text: In this article, we provide a review of large B-cell lymphomas (LBCLs), comparing the recently published fifth edition of the WHO classification and the International Consensus Classification (ICC) on hematolymphoid tumors.
    evidence:
    - reference: DOI:10.3390/ijms252313213
      reference_title: A Diagnostic Approach in Large B-Cell Lymphomas According to the Fifth World Health Organization and International Consensus Classifications and a Practical Algorithm in Routine Practice
      supports: SUPPORT
      evidence_source: OTHER
      snippet: In this article, we provide a review of large B-cell lymphomas (LBCLs), comparing the recently published fifth edition of the WHO classification and the International Consensus Classification (ICC) on hematolymphoid tumors.
      explanation: Deep research cited this publication as relevant literature for Burkitt Lymphoma.
- reference: DOI:10.3390/lymphatics1020010
  title: 'Translocation Tales: Unraveling the MYC Deregulation in Burkitt Lymphoma for Innovative Therapeutic Strategies'
  found_in:
  - Burkitt_Lymphoma-deep-research-falcon.md
  findings:
  - statement: MYC deregulation, a cardinal event in Burkitt lymphoma (BL) pathogenesis, necessitates the elucidation of the molecular mechanisms governing MYC activation to devise innovative and effective therapeutic strategies.
    supporting_text: MYC deregulation, a cardinal event in Burkitt lymphoma (BL) pathogenesis, necessitates the elucidation of the molecular mechanisms governing MYC activation to devise innovative and effective therapeutic strategies.
    evidence:
    - reference: DOI:10.3390/lymphatics1020010
      reference_title: 'Translocation Tales: Unraveling the MYC Deregulation in Burkitt Lymphoma for Innovative Therapeutic Strategies'
      supports: SUPPORT
      evidence_source: OTHER
      snippet: MYC deregulation, a cardinal event in Burkitt lymphoma (BL) pathogenesis, necessitates the elucidation of the molecular mechanisms governing MYC activation to devise innovative and effective therapeutic strategies.
      explanation: Deep research cited this publication as relevant literature for Burkitt Lymphoma.
datasets:
- accession: ega:EGAS00001001067
  title: Integrated genomic, transcriptional and epigenomic analyses in germinal center-cell lymphomas link the mutation landscape with differential DNA methylation in Burkitt lymphoma
  description: Biologically and clinically diverse B-cell neoplasms, including Burkitt, follicular and diffuse large B-cell lymphoma, show features of germinal center (GC) B-cells. Here we present a comprehensive analysis of the epigenetic landscape of GC-B-cell lymphomas using whole genome bisulfite sequencing paired with genome and transcriptome sequencing from 29 primary tumor samples and four normal GC-B-cell samples. All lymphomas studied showed extensive genome-wide methylation losses as well as intragenic regions where DNA methylation levels were strongly correlated with expression of associated genes.
  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 ("Burkitt Lymphoma"); 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:EGAS00001001199
  title: MINCR is a MYC-induced lncRNA able to modulate MYC’s transcriptional network in Burkitt lymphoma cells
  description: Despite the established role of the transcription factor MYC in cancer, little is known about the involvement of lncRNAs in mediating MYC’s function. Here we have intersected RNA-sequencing data from MYC-inducible cell lines, from a cohort of 91 mature B-cell lymphomas and from sorted germinal-center B-cells. By this approach, we identified 13 lncRNAs differentially expressed in IG-MYC-positive Burkitt lymphoma and regulated by MYC in the model cell lines. Among them we focused on a lncRNA that we named MINCR, showing a strong correlation with MYC expression in MYC-positive lymphomas and in pancreatic ductal adenocarcinomas.
  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 ("Burkitt Lymphoma"); 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:EGAS00001002198
  title: The genomic landscape of Burkitt Lymphoma
  description: As part of the ICGC, the ICGC MMML-Seq project performed whole genome sequencing and RNA sequencing of Burkitt Lymphomas . Burkitt lymphomas are the most common B-cell lymphomas in childhood. Analyses were performed in concordance with the guidelines of the ICGC. The results define the genomic landscape of structural variants, somatic single nucleotide variants and mutational signatures in these lymphomas.
  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 ("Burkitt Lymphoma"); 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: massive:MSV000080781
  title: HSP90 promotes Burkitt lymphoma cell survival by maintaining tonic B cell receptor signaling
  description: 'Burkitt’s lymphoma (BL) is an aggressive B-cell neoplasm that is currently treated by intensive chemotherapy in combination with anti-CD20 antibodies. Because of their toxicity, current treatment regimens are often not suitable for elderly patients or for patients in developing countries where BL is endemic. Hence, there is a need for targeted therapies. In this study, we performed a compound screen in 17 BL cell lines to identify small molecule inhibitors affecting cell survival.'
  notes: Located via OmicsDI, which aggregates across omics repositories; this record comes from massive. 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 ("Burkitt Lymphoma"). Retrieved 2026-08-02.
- accession: dbgap:phs001282
  title: Genomics of Endemic Burkitt Lymphoma
  description:  This genomic landscape of Burkitt lymphoma represents a multimodal sequencing of tumors and control tissues and individuals to better understand the etiology, and molecular pathogenesis of Burkitt lymphoma including the roles of the associated Plasmodium falciparum malaria and EBV infections. Comprehensive sequencing set includes genomic, transcriptomic, and epigenomic datasets in concert with variable clinical phenotypes and outcome information such as anatomical presentation site, in-hospital survival rates, and EBV genome type.
  notes: Located via OmicsDI, which aggregates across omics repositories; this record comes from dbgap. 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 ("Burkitt Lymphoma"). Retrieved 2026-08-02.
- accession: dbgap:phs000562
  title: The Genetic Landscape of Mutations in Burkitt Lymphoma
  description:  Burkitt lymphoma (BL) is characterized by deregulation of  MYC , but the contribution of other genetic mutations to the disease is largely unknown. We sequenced exomes of 59 BL tumors, 14 of which had paired normal tissue. Our work elucidates commonly occurring gene-coding mutations in Burkitt lymphoma and implicates  ID3  as a novel tumor suppressor gene.
  notes: Located via OmicsDI, which aggregates across omics repositories; this record comes from dbgap. 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 ("Burkitt Lymphoma"). Retrieved 2026-08-02.
📚

References & Deep Research

References

7
DOI:10.1002/ijc.34618
Incidence of Burkitt lymphoma in the United States during 2000 to 2019
1 finding
Burkitt lymphoma (BL) is an aggressive B‐cell lymphoma that occurs worldwide.
"Burkitt lymphoma (BL) is an aggressive B‐cell lymphoma that occurs worldwide."
Show evidence (1 reference)
DOI:10.1002/ijc.34618 SUPPORT Human Clinical
"Burkitt lymphoma (BL) is an aggressive B‐cell lymphoma that occurs worldwide."
Deep research cited this publication as relevant literature for Burkitt Lymphoma.
DOI:10.1002/path.6246
The fifth edition of the WHO classification of mature B‐cell neoplasms: open questions for research
1 finding
The fifth edition of the World Health Organization Classification of Haematolymphoid Tumours (WHO‐HAEM5) is the product of an evidence‐based evolution of the revised fourth edition with wide multidisciplinary consultation.
"The fifth edition of the World Health Organization Classification of Haematolymphoid Tumours (WHO‐HAEM5) is the product of an evidence‐based evolution of the revised fourth edition with wide multidisciplinary consultation."
Show evidence (1 reference)
DOI:10.1002/path.6246 SUPPORT Human Clinical
"The fifth edition of the World Health Organization Classification of Haematolymphoid Tumours (WHO‐HAEM5) is the product of an evidence‐based evolution of the revised fourth edition with wide multidisciplinary consultation."
Deep research cited this publication as relevant literature for Burkitt Lymphoma.
DOI:10.1182/blood.2019004099
The treatment of Burkitt lymphoma in adults
1 finding
Burkitt lymphoma (BL) is a highly aggressive, B-cell, non-Hodgkin lymphoma categorized into endemic, sporadic, and immunodeficiency-associated subtypes.
"Burkitt lymphoma (BL) is a highly aggressive, B-cell, non-Hodgkin lymphoma categorized into endemic, sporadic, and immunodeficiency-associated subtypes."
Show evidence (1 reference)
DOI:10.1182/blood.2019004099 SUPPORT Human Clinical
"Burkitt lymphoma (BL) is a highly aggressive, B-cell, non-Hodgkin lymphoma categorized into endemic, sporadic, and immunodeficiency-associated subtypes."
Deep research cited this publication as relevant literature for Burkitt Lymphoma.
DOI:10.26508/lsa.202101355
Endemic Burkitt lymphoma avatar mouse models for exploring inter-patient tumor variation and testing targeted therapies
1 finding
Endemic Burkitt lymphoma (BL) is a childhood cancer in sub-Saharan Africa characterized by Epstein–Barr virus and malaria-associated aberrant B-cell activation andMYCchromosomal translocation.
"Endemic Burkitt lymphoma (BL) is a childhood cancer in sub-Saharan Africa characterized by Epstein–Barr virus and malaria-associated aberrant B-cell activation andMYCchromosomal translocation."
Show evidence (1 reference)
DOI:10.26508/lsa.202101355 SUPPORT Model Organism
"Endemic Burkitt lymphoma (BL) is a childhood cancer in sub-Saharan Africa characterized by Epstein–Barr virus and malaria-associated aberrant B-cell activation andMYCchromosomal translocation."
Deep research cited this publication as relevant literature for Burkitt Lymphoma.
DOI:10.3390/diagnostics13122068
Worldwide Prevalence of Epstein–Barr Virus in Patients with Burkitt Lymphoma: A Systematic Review and Meta-Analysis
1 finding
Burkitt lymphoma (BL) is a form of B-cell malignancy that progresses aggressively and is most often seen in children.
"Burkitt lymphoma (BL) is a form of B-cell malignancy that progresses aggressively and is most often seen in children."
Show evidence (1 reference)
DOI:10.3390/diagnostics13122068 SUPPORT Human Clinical
"Burkitt lymphoma (BL) is a form of B-cell malignancy that progresses aggressively and is most often seen in children."
Deep research cited this publication as relevant literature for Burkitt Lymphoma.
DOI:10.3390/ijms252313213
A Diagnostic Approach in Large B-Cell Lymphomas According to the Fifth World Health Organization and International Consensus Classifications and a Practical Algorithm in Routine Practice
1 finding
In this article, we provide a review of large B-cell lymphomas (LBCLs), comparing the recently published fifth edition of the WHO classification and the International Consensus Classification (ICC) on hematolymphoid tumors.
"In this article, we provide a review of large B-cell lymphomas (LBCLs), comparing the recently published fifth edition of the WHO classification and the International Consensus Classification (ICC) on hematolymphoid tumors."
Show evidence (1 reference)
DOI:10.3390/ijms252313213 SUPPORT Other
"In this article, we provide a review of large B-cell lymphomas (LBCLs), comparing the recently published fifth edition of the WHO classification and the International Consensus Classification (ICC) on hematolymphoid tumors."
Deep research cited this publication as relevant literature for Burkitt Lymphoma.
DOI:10.3390/lymphatics1020010
Translocation Tales: Unraveling the MYC Deregulation in Burkitt Lymphoma for Innovative Therapeutic Strategies
1 finding
MYC deregulation, a cardinal event in Burkitt lymphoma (BL) pathogenesis, necessitates the elucidation of the molecular mechanisms governing MYC activation to devise innovative and effective therapeutic strategies.
"MYC deregulation, a cardinal event in Burkitt lymphoma (BL) pathogenesis, necessitates the elucidation of the molecular mechanisms governing MYC activation to devise innovative and effective therapeutic strategies."
Show evidence (1 reference)
DOI:10.3390/lymphatics1020010 SUPPORT Other
"MYC deregulation, a cardinal event in Burkitt lymphoma (BL) pathogenesis, necessitates the elucidation of the molecular mechanisms governing MYC activation to devise innovative and effective therapeutic strategies."
Deep research cited this publication as relevant literature for Burkitt Lymphoma.

Deep Research

1
Falcon ▸
1. Disease Information
Edison Scientific Literature 40 citations 2026-05-08T10:45:59.120407

1. Disease Information

Overview (definition, current understanding)

Burkitt lymphoma is a highly aggressive mature B-cell lymphoma characterized by rapid tumor growth, frequent extranodal disease, and a defining genomic hallmark of MYC dysregulation due to IG::MYC translocation. (crombie2021thetreatmentof pages 3-4, zanelli2024adiagnosticapproach pages 6-8)

Clinical-epidemiologic variants (WHO convention)

BL is classically described in three variants: endemic, sporadic, and immunodeficiency-associated. (zanelli2024adiagnosticapproach pages 6-8, malfona2024refractoryburkittlymphoma pages 1-2)

Direct abstract quote (definition): Crombie & LaCasce (Blood, 2021) define BL as “a highly aggressive, B-cell, non-Hodgkin lymphoma (NHL) categorized into endemic, sporadic and immunodeficiency-associated subtypes.” (crombie2021thetreatmentof pages 1-2)

Synonyms / alternative names (as used in retrieved sources)

  • “Burkitt lymphoma/leukemia” and “Burkitt lymphoma/leukemia (BLL)” are used when including leukemic presentations (malfona2024refractoryburkittlymphoma pages 1-2).
  • Historical/related diagnostic terms in the differential include “Burkitt-like lymphoma with 11q aberration” (now within high-grade B-cell lymphoma with 11q aberration; see Diagnostics section). (malfona2024refractoryburkittlymphoma pages 1-2, coupland2024thefifthedition pages 12-12)

Key classification resources (2023–2024)

Recent diagnostic reviews emphasize alignment of daily practice with WHO 5th edition (WHO-HAEM5) and the International Consensus Classification (ICC, 2022), including new/clarified boundaries between BL, HGBL-NOS, and MYC-negative BL mimics. (zanelli2024adiagnosticapproach pages 6-8, zanelli2024adiagnosticapproach pages 9-11, coupland2024thefifthedition pages 12-12)

2. Etiology

Disease causal factors (genetic, infectious, mechanistic)

Genetic driver: The central causal lesion is MYC activation via an immunoglobulin locus–MYC translocation (most commonly IGH::MYC). (malfona2024refractoryburkittlymphoma pages 1-2, zanelli2024adiagnosticapproach pages 6-8)

Infectious cofactor: Epstein–Barr virus (EBV) contributes strongly in endemic BL and in subsets of other variants. A 2023 meta-analysis estimated EBV presence in 57.5% of BL patients overall (pooled worldwide). (alkhreisat2023worldwideprevalenceof pages 1-2)

Direct abstract quote (EBV prevalence meta-analysis): Al‑Khreisat et al. (Diagnostics, 2023) report: “The prevalence of Epstein–Barr virus in patients with Burkitt lymphoma was 57.5% (95% CI: 51.5 to 63.4, n = 4837).” (alkhreisat2023worldwideprevalenceof pages 1-2)

Risk factors

Geographic/ecologic: Endemic BL is described as occurring in malaria-endemic regions and being largely EBV-driven; the SSA burden is substantial and strongly linked to diagnostic and treatment capacity constraints. (chamba2023clinicalapplicationof pages 1-2, chamba2023clinicalapplicationof pages 2-3)

Immunodeficiency: Immunodeficiency-associated BL includes HIV-associated BL; EBV positivity in sporadic/immunodeficiency-associated BL is reported in the ~25–40% range by a high-impact treatment review. (crombie2021thetreatmentof pages 3-4)

Protective factors

No specific genetic protective variants or environmental protective factors were identified in the retrieved sources for this run; this remains a gap for the knowledge-base entry requiring targeted searches (e.g., GWAS Catalog, host genetic studies of EBV/malaria interaction).

Gene–environment interactions

The retrieved 2023–2024 sources support a conceptual interaction where chronic immune stimulation/infection exposure (EBV; malaria in endemic regions; immunodeficiency states) increases the probability of transformation in a B cell already prone to/experiencing MYC dysregulation, but they do not provide quantitative interaction effect sizes in the accessible excerpts. (chamba2023clinicalapplicationof pages 1-2, malfona2024refractoryburkittlymphoma pages 1-2)

3. Phenotypes

Common clinical patterns (high-level)

BL is a rapidly progressive lymphoma with frequent extranodal involvement; endemic cases commonly involve craniofacial/jaw regions, while sporadic cases often present with abdominal disease (pattern-level statements supported in diagnostic and clinical reviews). (harlendea2024ki67asa pages 2-4, crombie2021thetreatmentof pages 3-4)

Diagnostic phenotype (morphology + immunophenotype)

The diagnostic phenotype strongly shapes “phenotype” documentation: - Morphology: diffuse proliferation of relatively uniform medium-sized cells with frequent mitoses and a “starry sky” pattern. (zanelli2024adiagnosticapproach pages 6-8) - Immunophenotype: germinal center profile with CD10+, BCL6+, typically BCL2−/weak, and very high proliferation (Ki-67 typically >95%). (zanelli2024adiagnosticapproach pages 6-8, malfona2024refractoryburkittlymphoma pages 1-2)

Suggested HPO terms (knowledge-base oriented; not exhaustive)

Because the retrieved excerpts emphasize diagnostic morphology and general clinical aggressiveness rather than structured symptom prevalence, the most defensible HPO mapping in this run is to lymphoma-related and organ-mass manifestations and laboratory/complication phenotypes described in BL treatment contexts: - Lymphadenopathy (HP:0002716) (supported as a common presenting feature in adult/adolescent cohort description) (harlendea2024ki67asa pages 2-4) - Abdominal pain (HP:0002027) (harlendea2024ki67asa pages 2-4) - Tumor lysis syndrome (HP:0003466) (not quantified in retrieved evidence excerpts; included as clinically relevant but requires primary citation beyond current excerpts)

Gap note: The template requests onset/progression/frequency/QoL per phenotype; these require dedicated cohort and QoL instrument papers that were not retrieved in this run.

4. Genetic/Molecular Information

Causal genes / defining lesion

  • MYC: defining lesion is IG::MYC translocation (MYC at 8q24). (zanelli2024adiagnosticapproach pages 6-8, malfona2024refractoryburkittlymphoma pages 1-2)

Chromosomal abnormalities (translocations)

Reported translocation partners and approximate frequencies: - t(8;14) IGH::MYC: ~70–80% (siddiqui2023fromthearchives pages 3-4) - t(2;8) IGK::MYC: ~15% (siddiqui2023fromthearchives pages 3-4) - t(8;22) IGL::MYC: ~5% (siddiqui2023fromthearchives pages 3-4)

Cooperating somatic alterations (recurrent pathways/genes)

Multiple sources emphasize cooperating lesions, particularly in BCR/PI3K signaling and cell-cycle control: - TCF3 / ID3 pathway: reported as mutated in ~70% of sporadic and immunodeficiency-associated BL and ~40% of endemic BL in a diagnostic pathology review; this pathway connects to PI3K and CCND3 activation. (siddiqui2023fromthearchives pages 3-4) - CCND3: reported as found in about one-third of cases in a 2024 clinical review. (malfona2024refractoryburkittlymphoma pages 1-2) - TP53: TP53 alterations occur in BL (e.g., up to ~35% reported in an adult BL treatment review excerpt). (crombie2021thetreatmentof pages 3-4)

EBV-associated molecular features

EBV detection is typically via EBER in situ hybridization and is linked to distinct latency programs; EBER1/2 are noted as markers of EBV infection in BL. (zanelli2024adiagnosticapproach pages 6-8, siddiqui2023fromthearchives pages 3-4)

Suggested GO biological process terms (mechanism-oriented)

Based on described biology (MYC-driven proliferation; apoptosis evasion; metabolic reprogramming), plausible GO terms for knowledge-base scaffolding include: - Cell cycle process (GO:0022402) - Regulation of apoptotic process (GO:0042981) - Regulation of B cell activation (GO:0050864) These are mechanistically consistent with the MYC-centric and apoptosis/IFN signatures described in models and reviews, but the retrieved excerpts do not provide explicit GO mappings. (tandon2023translocationtalesunraveling pages 16-17, lakshmi2023endemicburkittlymphoma pages 10-12)

5. Environmental Information

Infectious agents

  • Epstein–Barr virus (EBV): strong association, especially in endemic BL (~95% reported in systematic review background; pooled prevalence >50%). (alkhreisat2023worldwideprevalenceof pages 2-3, alkhreisat2023worldwideprevalenceof pages 1-2)

Resource-limited setting determinants (SSA)

In sub-Saharan Africa, non-biologic environmental/system factors materially influence outcomes, particularly limited access to reliable diagnostic services, which contributes to delay and misdiagnosis. (chamba2023clinicalapplicationof pages 1-2)

Direct quote (diagnostic access/outcomes context): Chamba et al. (Cambridge Prisms: Precision Medicine, 2023) report “limited access to reliable diagnostic services leading to significant delays and misdiagnoses.” (chamba2023clinicalapplicationof pages 1-2)

6. Mechanism / Pathophysiology

Causal chain (high-level)

  1. Initiating/defining event: reciprocal IG::MYC translocation causes MYC overexpression/deregulation. (zanelli2024adiagnosticapproach pages 6-8, crombie2021thetreatmentof pages 3-4)
  2. Downstream oncogenic program: MYC drives proliferation, cell-cycle progression, apoptosis evasion, and metabolic rewiring (review-level synthesis). (tandon2023translocationtalesunraveling pages 16-17)
  3. Cooperating lesions: recurrent mutations in pathways such as TCF3/ID3 and CCND3 reinforce proliferative/survival signaling (including PI3K). (siddiqui2023fromthearchives pages 3-4, malfona2024refractoryburkittlymphoma pages 1-2)
  4. Contextual cofactors: EBV (especially endemic disease) and immunodeficiency states likely shape B-cell activation and immune evasion, facilitating malignant expansion. (alkhreisat2023worldwideprevalenceof pages 2-3, crombie2021thetreatmentof pages 3-4)

Recent mechanistic developments (2023–2024)

Model-informed heterogeneity and response biology: Patient-derived BL “avatar” mouse models (NSG-BL) show substantial inter-patient heterogeneity in growth/survival and EBV protein expression and reveal distinct signatures of rituximab sensitivity (apoptosis/mTORC1) vs unresponsiveness (IFN-α signature involving IRF7/ISG15). (lakshmi2023endemicburkittlymphoma pages 1-2, lakshmi2023endemicburkittlymphoma pages 10-12)

7. Anatomical Structures Affected

Tissue/cell of origin (cellular level)

BL is a germinal center B-cell phenotype lymphoma (CD10+, BCL6+) and expresses mature B-cell markers (CD20, CD79a, PAX5, CD19, surface IgM). (zanelli2024adiagnosticapproach pages 6-8, crombie2021thetreatmentof pages 3-4)

Suggested Cell Ontology (CL) term

  • Germinal center B cell (CL term suggestion; explicit CL code not provided in retrieved sources)

Suggested UBERON terms (localization; high-level)

  • Lymph node (UBERON:0000029)
  • Bone marrow (UBERON:0002371)
  • Gastrointestinal tract (UBERON:0005409) These anatomical suggestions align with “high extranodal involvement” emphasized in BL reviews but are not enumerated with site frequencies in the retrieved excerpts. (crombie2021thetreatmentof pages 1-2)

8. Temporal Development

BL is described as a rapidly progressive neoplasm, and endemic BL peaks in childhood (median age ~6 years in review background). (alkhreisat2023worldwideprevalenceof pages 2-3, malfona2024refractoryburkittlymphoma pages 1-2)

9. Inheritance and Population

Epidemiology — United States (SEER; 2023 primary analysis)

Mburu et al. analyzed 11,626 BL cases in SEER 22 (2000–2019) and reported: - Age-standardized incidence: 3.96 per million person-years (mburu2023incidenceofburkitt pages 1-3) - Sex ratio: 2.85:1 male:female (mburu2023incidenceofburkitt pages 1-3) - 2-year overall survival: 64%, with improvement over time (“Survival improved by 20% between 2000 and 2019.”) (mburu2023incidenceofburkitt pages 1-3)

Direct abstract quote (incidence/survival): Mburu et al. (Int J Cancer, 2023) report “The age-standardized BL incidence rate was 3.96/million person-years, with a 2.85:1 male-to-female ratio” and “Overall survival from BL was 64% at 2 years.” (mburu2023incidenceofburkitt pages 1-3)

Epidemiology — sub-Saharan Africa (implementation-focused 2023 review)

Chamba et al. summarize large heterogeneity in SSA incidence and high mortality: - Incidence range: 0.5/million (Ethiopia) to 19.3/million (Malawi) (chamba2023clinicalapplicationof pages 1-2) - Estimated new cases: ~3,900 in SSA in 2018 (chamba2023clinicalapplicationof pages 1-2) - Outcome: “more than 50%” of children/young adults with endemic BL in SSA do not survive (chamba2023clinicalapplicationof pages 1-2)

10. Diagnostics

Core diagnostic concept (WHO-HAEM5/ICC-aligned)

Diagnosis relies on typical morphology, germinal-center B-cell immunophenotype, and confirmation of the isolated IG::MYC rearrangement, with routine assessment of EBV status by EBER in situ hybridization (especially for classification and context). (zanelli2024adiagnosticapproach pages 6-8, zanelli2024adiagnosticapproach pages 9-11)

Immunohistochemistry (IHC) and biomarkers

Commonly emphasized IHC pattern: - B-cell markers: CD20, CD79a, PAX5, CD19 (zanelli2024adiagnosticapproach pages 6-8) - Germinal center markers: CD10+, BCL6+ (zanelli2024adiagnosticapproach pages 6-8) - BCL2 negative or weak (zanelli2024adiagnosticapproach pages 6-8) - Ki-67 typically >95% (zanelli2024adiagnosticapproach pages 6-8, malfona2024refractoryburkittlymphoma pages 1-2)

EBV testing

A WHO/ICC-oriented diagnostic review recommends EBER in situ hybridization and reports EBER positivity in most endemic BL and ~30% of sporadic/immunodeficiency-associated BL. (zanelli2024adiagnosticapproach pages 6-8)

Cytogenetics / FISH and differential diagnosis

  • A 2024 diagnostic algorithm paper notes WHO-HAEM5 and ICC recommend routine FISH screening for MYC, BCL2, and BCL6 in large B-cell lymphomas to capture double/triple hit disease. (zanelli2024adiagnosticapproach pages 9-11)
  • BL mimics include high-grade B-cell lymphoma with 11q aberration (HGBL-11q), which is typically MYC rearrangement–negative, EBV-negative, and defined by 11q gain/loss patterns detectable by interphase FISH. Screening for 11q is recommended specifically in MYC-R–negative cases with BL-like morphology/immunophenotype. (coupland2024thefifthedition pages 12-12)

Liquid biopsy / cell-free DNA (real-world implementation focus)

A 2023 precision-medicine review proposes circulating tumor DNA (ctDNA)/cell-free DNA (cfDNA) approaches to improve diagnosis and monitoring in SSA where FISH/PET may be limited: - “c-MYC is therefore theoretically an ideal target for the diagnosis of BL from ctDNA.” (chamba2023clinicalapplicationof pages 1-2) - Sequencing of plasma ctDNA detected MYC translocations in ~79% of cases vs FISH, rising to ~95% in high tumor burden (ctDNA >16 pg/ml). (chamba2023clinicalapplicationof pages 3-4) - Implementation barriers: limited pathology capacity, lack of accredited labs, limited bioinformatics training/infrastructure, and long tissue-diagnostic delays (up to 71 days vs 2 days in the USA). (chamba2023clinicalapplicationof pages 2-3, chamba2023clinicalapplicationof pages 4-5)

11. Outcome / Prognosis

Registry-based survival (U.S.)

Two-year overall survival was 64% in SEER 2000–2019 analysis, with highest survival in pediatric patients and lowest in Black and elderly individuals. (mburu2023incidenceofburkitt pages 1-3)

Relapsed/refractory disease prognosis

A 2024 review emphasizes that despite high frontline cure rates, refractory BL has very poor outcomes.

Direct abstract quote (refractory outcomes): Malfona et al. (Blood and Lymphatic Cancer: Targets and Therapy, published March 2024) state: “The prognosis is very poor, ranging from less than 10% to 30–40%, with longer survival only in transplanted patients.” (malfona2024refractoryburkittlymphoma pages 1-2)

12. Treatment

Current standard approaches (high-level)

Frontline therapy is based on intensive, multi-agent chemotherapy regimens, often with anti-CD20 immunotherapy (rituximab); outcomes are generally excellent in pediatric populations and lower in adults, with major challenges in refractory disease. (malfona2024refractoryburkittlymphoma pages 1-2, harlendea2024ki67asa pages 2-4)

A 2024 refractory BL review summarizes frontline outcome expectations: - Cure rates “outreaching 90%” in pediatric age and “70%” in adult age in settings with standard intensive approaches. (malfona2024refractoryburkittlymphoma pages 1-2)

Emerging and investigational approaches

A 2024 refractory BL review notes emerging targeted strategies across multiple axes (e.g., BCR pathway inhibitors, proteasome inhibitors, next-generation antibodies, CAR-T and bispecific antibodies) but emphasizes limited data and heterogeneity of salvage settings. (malfona2024refractoryburkittlymphoma pages 1-2)

Active clinical trials (examples from retrieved registry search)

ClinicalTrials.gov search retrieved multiple recruiting/active CAR-T trials broadly enrolling relapsed/refractory B-cell hematologic malignancies that may include BL among eligible B-cell lymphomas, e.g.: - NCT06735495 (CD19 & CD22 bispecific CAR-T; Phase 1/2; recruiting) (NCT06735495 chunk 1, NCT06735495 chunk 2) - NCT06503094 (CD19 & CD20 bispecific CAR-T; Phase 1/2; recruiting) (NCT06503094 chunk 1, NCT06503094 chunk 2)

Note: Eligibility specifics for Burkitt lymphoma require per-trial confirmation from the full record text.

Suggested MAXO terms (treatment-action ontology; high-level)

  • Chemotherapy (MAXO:0000058; suggested)
  • Monoclonal antibody therapy (rituximab/anti-CD20) (MAXO term suggestion)
  • Hematopoietic stem cell transplantation (MAXO term suggestion; relevant in refractory settings) (malfona2024refractoryburkittlymphoma pages 1-2)
  • CAR T-cell therapy (MAXO term suggestion; investigational) (NCT06735495 chunk 1)

13. Prevention

No BL-specific primary prevention interventions were directly evidenced in the retrieved excerpts beyond the general implication that reducing infection-related drivers (EBV/malaria) and improving HIV management could reduce risk. The 2023–2024 retrieved sources focus more on diagnostic and treatment capacity as the most immediate, actionable lever for mortality reduction in endemic settings. (chamba2023clinicalapplicationof pages 1-2, chamba2023clinicalapplicationof pages 4-5)

14. Other Species / Natural Disease

No naturally occurring non-human BL analogs were identified in the retrieved evidence excerpts. (Gap for targeted veterinary/OMIA searches.)

15. Model Organisms

Patient-derived “avatar” mouse models (2023 development)

Lakshmi et al. (Life Science Alliance, 2023) established five patient-derived BL tumor cell lines and corresponding NSG-BL avatar mouse models, demonstrating transcriptomic fidelity to the originating tumors and substantial inter-patient heterogeneity in growth/survival and EBV protein expression. (lakshmi2023endemicburkittlymphoma pages 1-2)

These models were used to test rituximab response and to identify response-associated pathways (apoptosis/mTORC1 vs IFN-α signatures), providing a translational framework for prioritizing targeted therapies relevant to endemic BL. (lakshmi2023endemicburkittlymphoma pages 10-12)

Evidence and citation notes (PMID handling)

Many retrieved sources were provided with DOIs/URLs but not PMIDs in the tool outputs. Where PMIDs are required for the knowledge base, these should be added by matching DOI→PMID in PubMed during curation. This limitation reflects metadata availability in the retrieved excerpts rather than absence of PubMed indexing.

Key URLs and publication dates (selected)

  • Mburu et al., Jun 2023, International Journal of Cancer: https://doi.org/10.1002/ijc.34618 (mburu2023incidenceofburkitt pages 1-3)
  • Al‑Khreisat et al., Jun 2023, Diagnostics: https://doi.org/10.3390/diagnostics13122068 (alkhreisat2023worldwideprevalenceof pages 1-2)
  • Chamba et al., Jan 2023, Cambridge Prisms: Precision Medicine: https://doi.org/10.1017/pcm.2023.1 (chamba2023clinicalapplicationof pages 1-2)
  • Lakshmi et al., Mar 2023, Life Science Alliance: https://doi.org/10.26508/lsa.202101355 (lakshmi2023endemicburkittlymphoma pages 1-2)
  • Malfona et al., Mar 2024, Blood and Lymphatic Cancer: Targets and Therapy: https://doi.org/10.2147/BLCTT.S407804 (malfona2024refractoryburkittlymphoma pages 1-2)
  • Zanelli et al., Dec 2024, International Journal of Molecular Sciences: https://doi.org/10.3390/ijms252313213 (zanelli2024adiagnosticapproach pages 6-8)

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