Burkitt lymphoma

From Compendium of Cancer Genome Aberrations
Jump to navigation Jump to search


Haematolymphoid Tumours (WHO Classification, 5th ed.)

editContent Update To WHO 5th Edition Classification Is In Process; Content Below is Based on WHO 4th Edition Classification
This page was converted to the new template on 2023-12-07. The original page can be found at HAEM4:Burkitt Lymphoma.

(General Instructions – The focus of these pages is the clinically significant genetic alterations in each disease type. This is based on up-to-date knowledge from multiple resources such as PubMed and the WHO classification books. The CCGA is meant to be a supplemental resource to the WHO classification books; the CCGA captures in a continually updated wiki-stye manner the current genetics/genomics knowledge of each disease, which evolves more rapidly than books can be revised and published. If the same disease is described in multiple WHO classification books, the genetics-related information for that disease will be consolidated into a single main page that has this template (other pages would only contain a link to this main page). Use HUGO-approved gene names and symbols (italicized when appropriate), HGVS-based nomenclature for variants, as well as generic names of drugs and testing platforms or assays if applicable. Please complete tables whenever possible and do not delete them (add N/A if not applicable in the table and delete the examples); to add (or move) a row or column in a table, click nearby within the table and select the > symbol that appears. Please do not delete or alter the section headings. The use of bullet points alongside short blocks of text rather than only large paragraphs is encouraged. Additional instructions below in italicized blue text should not be included in the final page content. Please also see Author_Instructions and FAQs as well as contact your Associate Editor or Technical Support.)

Primary Author(s)*

Becky Leung, MBBS (Hons), BSc, Pathology Queensland

WHO Classification of Disease

Structure Disease
Book Haematolymphoid Tumours (5th ed.)
Category B-cell lymphoid proliferations and lymphomas
Family Mature B-cell neoplasms
Type N/A
Subtype(s) Burkitt lymphoma

WHO Essential and Desirable Genetic Diagnostic Criteria

(Instructions: The table will have the diagnostic criteria from the WHO book autocompleted; remove any non-genetics related criteria. If applicable, add text about other classification systems that define this entity and specify how the genetics-related criteria differ.)

WHO Essential Criteria (Genetics)*
WHO Desirable Criteria (Genetics)*
Other Classification

*Note: These are only the genetic/genomic criteria. Additional diagnostic criteria can be found in the WHO Classification of Tumours.

Related Terminology

(Instructions: The table will have the related terminology from the WHO autocompleted.)

Acceptable
Not Recommended

Gene Rearrangements

Put your text here and fill in the table (Instructions: Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.)

Driver Gene Fusion(s) and Common Partner Genes Molecular Pathogenesis Typical Chromosomal Alteration(s) Prevalence -Common >20%, Recurrent 5-20% or Rare <5% (Disease) Diagnostic, Prognostic, and Therapeutic Significance - D, P, T Established Clinical Significance Per Guidelines - Yes or No (Source) Clinical Relevance Details/Other Notes
EXAMPLE: ABL1 EXAMPLE: BCR::ABL1 EXAMPLE: The pathogenic derivative is the der(22) resulting in fusion of 5’ BCR and 3’ABL1. EXAMPLE: t(9;22)(q34;q11.2) EXAMPLE: Common (CML) EXAMPLE: D, P, T EXAMPLE: Yes (WHO, NCCN) EXAMPLE:

The t(9;22) is diagnostic of CML in the appropriate morphology and clinical context (add reference). This fusion is responsive to targeted therapy such as Imatinib (Gleevec) (add reference). BCR::ABL1 is generally favorable in CML (add reference).

EXAMPLE: CIC EXAMPLE: CIC::DUX4 EXAMPLE: Typically, the last exon of CIC is fused to DUX4. The fusion breakpoint in CIC is usually intra-exonic and removes an inhibitory sequence, upregulating PEA3 genes downstream of CIC including ETV1, ETV4, and ETV5. EXAMPLE: t(4;19)(q25;q13) EXAMPLE: Common (CIC-rearranged sarcoma) EXAMPLE: D EXAMPLE:

DUX4 has many homologous genes; an alternate translocation in a minority of cases is t(10;19), but this is usually indistinguishable from t(4;19) by short-read sequencing (add references).

EXAMPLE: ALK EXAMPLE: ELM4::ALK


Other fusion partners include KIF5B, NPM1, STRN, TFG, TPM3, CLTC, KLC1

EXAMPLE: Fusions result in constitutive activation of the ALK tyrosine kinase. The most common ALK fusion is EML4::ALK, with breakpoints in intron 19 of ALK. At the transcript level, a variable (5’) partner gene is fused to 3’ ALK at exon 20. Rarely, ALK fusions contain exon 19 due to breakpoints in intron 18. EXAMPLE: N/A EXAMPLE: Rare (Lung adenocarcinoma) EXAMPLE: T EXAMPLE:

Both balanced and unbalanced forms are observed by FISH (add references).

EXAMPLE: ABL1 EXAMPLE: N/A EXAMPLE: Intragenic deletion of exons 2–7 in EGFR removes the ligand-binding domain, resulting in a constitutively active tyrosine kinase with downstream activation of multiple oncogenic pathways. EXAMPLE: N/A EXAMPLE: Recurrent (IDH-wildtype Glioblastoma) EXAMPLE: D, P, T
editv4:Chromosomal Rearrangements (Gene Fusions)
The content below was from the old template. Please incorporate above.

The development of Burkitt lymphoma is dependent on the constitutive expression of the MYC proto-oncogene. The MYC encoded protein is a transcriptional regulator, controlling target genes involved in cell cycle regulation, metabolism and apoptosis. Dysregulation of MYC expression occurs due to juxtaposition of regulatory elements of the immunoglobulin loci, usually IGH, but also IGL or IGK. Overexpression of MYC correlates with increased cell survival. The different Burkitt lymphoma subtypes harbour diverse MYC and IGH locus breakpoints. In endemic Burkitt lymphoma, MYC usually breaks several hundred kilobases further upstream and IG usually breaks in the VDJ region. In contrast, most sporadic and immunodeficiency-associated Burkitt lymphoma have chromosomal breakpoints within exon 1 and the first intron of MYC and at the class switch region of IG[1]. Although fluorescence in situ hydribisation (FISH) methods are well established in most pathology laboratories, no single probe set is able to cover all MYC breakpoints. In particular, distant breakpoints, complex rearrangements and cryptic insertions may be overlooked[2]. Hence, multiple FISH probe sets are required for comprehensive detection of clinically relevant MYC gene rearrangements.

A translocation involving MYC cannot be detected by FISH or classical cytogenetics in a small percentage of cases (less than 5%). This may be due to technical issues, such as a very small excision of MYC and insertion of the gene onto the IG loci, or a breakpoint localised outside the regions covered by the utilised FISH probes[3]. Mechanisms other then translocation that similarly lead to MYC overexpression have also been implicated in the development of Burkitt lymphoma[4]. Investigation for these should be considered in the presence of a consistent clinical and laboratory phenotype, where fusions are not detected.

Chromosomal Rearrangement Genes in Fusion (5’ or 3’ Segments) Pathogenic Derivative Prevalence
t(8;14)(q24;q32) 5'IGH / 3'MYC der(14) 85%
t(8;22)(q24;q11) 5'MYC / 3'IGL der(8) 10%
t(2;8)(p12;q24) 5'MYC / 3'IGK der(8) 5%
End of V4 Section


editv4:Clinical Significance (Diagnosis, Prognosis and Therapeutic Implications).
Please incorporate this section into the relevant tables found in:
  • Chromosomal Rearrangements (Gene Fusions)
  • Individual Region Genomic Gain/Loss/LOH
  • Characteristic Chromosomal Patterns
  • Gene Mutations (SNV/INDEL)

Deciphering the genomic landscape of Burkitt lymphoma provides additional molecular targets for new treatment regimens. Burkitt lymphoma is often curable using intensive chemotherapy treatments. However, these regimens may not be well tolerated by older individuals and further treatment options are required for those who exhibit refractory or relapsed disease.

Considerations are for inhibitors of PI3K signaling and downstream pathways, and inhibiting cyclin dependent kinase 4/6 to block cyclin D3 mediated cell cycle progression.

End of V4 Section

Individual Region Genomic Gain/Loss/LOH

Put your text here and fill in the table (Instructions: Includes aberrations not involving gene rearrangements. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Can refer to CGC workgroup tables as linked on the homepage if applicable. Please include references throughout the table. Do not delete the table.)

Chr # Gain, Loss, Amp, LOH Minimal Region Cytoband and/or Genomic Coordinates [Genome Build; Size] Relevant Gene(s) Diagnostic, Prognostic, and Therapeutic Significance - D, P, T Established Clinical Significance Per Guidelines - Yes or No (Source) Clinical Relevance Details/Other Notes
EXAMPLE:

7

EXAMPLE: Loss EXAMPLE:

chr7

EXAMPLE:

Unknown

EXAMPLE: D, P EXAMPLE: No EXAMPLE:

Presence of monosomy 7 (or 7q deletion) is sufficient for a diagnosis of AML with MDS-related changes when there is ≥20% blasts and no prior therapy (add reference).  Monosomy 7/7q deletion is associated with a poor prognosis in AML (add references).

EXAMPLE:

8

EXAMPLE: Gain EXAMPLE:

chr8

EXAMPLE:

Unknown

EXAMPLE: D, P EXAMPLE:

Common recurrent secondary finding for t(8;21) (add references).

EXAMPLE:

17

EXAMPLE: Amp EXAMPLE:

17q12; chr17:39,700,064-39,728,658 [hg38; 28.6 kb]

EXAMPLE:

ERBB2

EXAMPLE: D, P, T EXAMPLE:

Amplification of ERBB2 is associated with HER2 overexpression in HER2 positive breast cancer (add references). Add criteria for how amplification is defined.

editv4:Genomic Gain/Loss/LOH
The content below was from the old template. Please incorporate above.

Most often, Burkitt lymphoma is associated with a simple karyotype. However additional chromosomal abnormalities may also occur and play a role in disease progression, see the table below for the more commonly implicated cytogenetic abnormalities.

In the context of a Burkitt lymphoma-like phenotype and/or Burkitt-like morphological appearance, the diagnosis of 'Burkitt-like lymphoma with 11q aberration' should be considered. This provisional WHO entity lacks a detectable MYC rearrangement, but shows alterations of 11q. These 11q alterations typically include proximal gains (eg 11q23.2-23.3), and telomeric losses (eg 11q24.1-ter). MicroRNA and gene expression profiling patterns are consistent with Burkitt lymphoma. Other common karyotypic features of this condition include a complex karyotype, and lack of the 1q loss typical of Burkitt lymphoma.

Chromosome Number Gain/Loss/Amp/LOH Region
1q Gain 21-25
6q Loss 11-14
7 Gain
8 Gain
12 Gain
13q Loss 32-34
17p Loss
18 Gain
End of V4 Section

Characteristic Chromosomal or Other Global Mutational Patterns

Put your text here and fill in the table (Instructions: Included in this category are alterations such as hyperdiploid; gain of odd number chromosomes including typically chromosome 1, 3, 5, 7, 11, and 17; co-deletion of 1p and 19q; complex karyotypes without characteristic genetic findings; chromothripsis; microsatellite instability; homologous recombination deficiency; mutational signature pattern; etc. Details on clinical significance such as prognosis and other important information can be provided in the notes section. Please include references throughout the table. Do not delete the table.)

Chromosomal Pattern Molecular Pathogenesis Prevalence -

Common >20%, Recurrent 5-20% or Rare <5% (Disease)

Diagnostic, Prognostic, and Therapeutic Significance - D, P, T Established Clinical Significance Per Guidelines - Yes or No (Source) Clinical Relevance Details/Other Notes
EXAMPLE:

Co-deletion of 1p and 18q

EXAMPLE: See chromosomal rearrangements table as this pattern is due to an unbalanced derivative translocation associated with oligodendroglioma (add reference). EXAMPLE: Common (Oligodendroglioma) EXAMPLE: D, P
EXAMPLE:

Microsatellite instability - hypermutated

EXAMPLE: Common (Endometrial carcinoma) EXAMPLE: P, T

Gene Mutations (SNV/INDEL)

Put your text here and fill in the table (Instructions: This table is not meant to be an exhaustive list; please include only genes/alterations that are recurrent or common as well either disease defining and/or clinically significant. If a gene has multiple mechanisms depending on the type or site of the alteration, add multiple entries in the table. For clinical significance, denote associations with FDA-approved therapy (not an extensive list of applicable drugs) and NCCN or other national guidelines if applicable; Can also refer to CGC workgroup tables as linked on the homepage if applicable as well as any high impact papers or reviews of gene mutations in this entity. Details on clinical significance such as prognosis and other important information such as concomitant and mutually exclusive mutations can be provided in the notes section. Please include references throughout the table. Do not delete the table.)

Gene Genetic Alteration Tumor Suppressor Gene, Oncogene, Other Prevalence -

Common >20%, Recurrent 5-20% or Rare <5% (Disease)

Diagnostic, Prognostic, and Therapeutic Significance - D, P, T   Established Clinical Significance Per Guidelines - Yes or No (Source) Clinical Relevance Details/Other Notes
EXAMPLE:EGFR


EXAMPLE: Exon 18-21 activating mutations EXAMPLE: Oncogene EXAMPLE: Common (lung cancer) EXAMPLE: T EXAMPLE: Yes (NCCN) EXAMPLE: Exons 18, 19, and 21 mutations are targetable for therapy. Exon 20 T790M variants cause resistance to first generation TKI therapy and are targetable by second and third generation TKIs (add references).
EXAMPLE: TP53; Variable LOF mutations


EXAMPLE: Variable LOF mutations EXAMPLE: Tumor Supressor Gene EXAMPLE: Common (breast cancer) EXAMPLE: P EXAMPLE: >90% are somatic; rare germline alterations associated with Li-Fraumeni syndrome (add reference). Denotes a poor prognosis in breast cancer.
EXAMPLE: BRAF; Activating mutations EXAMPLE: Activating mutations EXAMPLE: Oncogene EXAMPLE: Common (melanoma) EXAMPLE: T

Note: A more extensive list of mutations can be found in cBioportal, COSMIC, and/or other databases. When applicable, gene-specific pages within the CCGA site directly link to pertinent external content.

editv4:Gene Mutations (SNV/INDEL)
The content below was from the old template. Please incorporate above.
Gene Oncogene/Tumor Suppressor/Other Presumed Mechanism (LOF/GOF/Other; Driver/Passenger) Prevalence (COSMIC/TCGA/Other)
MYC Oncogene GOF 67%
ID3[5] Tumour suppressor LOF 34%
DDX3X[6] Tumour suppressor LOF 34%
BCL6[7] Oncogene GOF 25%
BCL7A[8] Oncogene GOF 24%
FBXO11[9] Tumour suppressor LOF 23%
FOXO1[10] Oncogene GOF 23%
SMARCA4[11] Tumour suppressor LOF 23%
ARID1A[12] Tumour suppressor LOF 18%
TP53[13] Tumour suppressor LOF 17%
CTCF[14] Tumour suppressor LOF 16%
CREBBP[15] Tumour suppressor LOF 15%
TCL1A[16] Oncogene GOF 15%
BCR[17] Oncogene GOF 15%
TCF3[18] Oncogene GOF 14%
CCND3[19] Oncogene GOF 14%
End of V4 Section

Epigenomic Alterations

Put your text here

Genes and Main Pathways Involved

Put your text here and fill in the table (Instructions: Please include references throughout the table. Do not delete the table.)

Gene; Genetic Alteration Pathway Pathophysiologic Outcome
EXAMPLE: BRAF and MAP2K1; Activating mutations EXAMPLE: MAPK signaling EXAMPLE: Increased cell growth and proliferation
EXAMPLE: CDKN2A; Inactivating mutations EXAMPLE: Cell cycle regulation EXAMPLE: Unregulated cell division
EXAMPLE: KMT2C and ARID1A; Inactivating mutations EXAMPLE: Histone modification, chromatin remodeling EXAMPLE: Abnormal gene expression program
editv4:Genes and Main Pathways Involved
The content below was from the old template. Please incorporate above.

MYC is the most commonly mutated gene in Burkitt lymphoma, such variants lead to constitutive expression of MYC, which drives cell survival. Aberrant somatic hypermutation is understood to be the major cause of MYC breakpoint formation and the presence of hypermutation in tandem with MYC rearrangement may be detectable if using sequencing methodologies.

Localised TP53 inactivating mutations or chromosomal deletions involving TP53 are also common in Burkitt lymphoma, and cause abrogation of TP53-dependent apoptotic pathways. Loss of TP53 function through the aforementioned means, or dysregulation due to the mutation of TP53 regulatory elements, is believed to be key to the development of Burkitt lymphoma[20].

TCF3 or ID3 mutations are seen in approximately 70% of sporadic Burkitt lymphoma. The normal function of transcription factor E2A (encoded by TCF3) is regulation of the differentiation of B-cells in the germinal centre. Mutations in TCF3 leads to reduced affinity for its negative regulator, ID3, promoting constitutive activity. TCF3 promotes B-cell receptor signaling in Burkitt lymphoma, which enhances survival via the PI3 kinase pathway. TCF3 also transactivates CCND3 which encodes cyclin D3 expression, promoting cell cycle progression and proliferation[21].

Mutations overall, and in particular in TCF3 and ID3, are less common in endemic Burkitt lymphoma when compared to sporadic cases. It is postulated that this additional mutational burden may take the place of EBV in sporadic Burkitt lymphomagenesis, given that either mechanism can lead to the activation of B-cell receptor signaling.

The gene expression and micro-RNA expression profiles of Burkitt lymphoma are different from other lymphomas. The expression profiles of endemic and sporadic BL are also slightly different to each other. There may be grey zones where Burkitt lymphoma is difficult to distinguish from diffuse large B-cell lymphoma based on gene expression, hence expression should not be used as an independent diagnostic tool[22].

End of V4 Section

Genetic Diagnostic Testing Methods

Put your text here (Instructions: Include recommended testing type(s) to identify the clinically significant genetic alterations.)

Familial Forms

The X-linked lymphoproliferative syndrome 'Duncan disease', is associated with SH2D1A mutations. Individuals with this condition are at greatly increased risk of developing Burkitt lymphoma.

Additional Information

Put your text here

Links

HAEM5:High grade B-cell lymphoma with 11q aberrations

References

(use the "Cite" icon at the top of the page) (Instructions: Add each reference into the text above by clicking where you want to insert the reference, selecting the “Cite” icon at the top of the wiki page, and using the “Automatic” tab option to search by PMID to select the reference to insert. If a PMID is not available, such as for a book, please use the “Cite” icon, select “Manual” and then “Basic Form”, and include the entire reference. To insert the same reference again later in the page, select the “Cite” icon and “Re-use” to find the reference; DO NOT insert the same reference twice using the “Automatic” tab as it will be treated as two separate references. The reference list in this section will be automatically generated and sorted.)

  1. ↑ Neri, A.; et al. (1988-04-01). "Different regions of the immunoglobulin heavy-chain locus are involved in chromosomal translocations in distinct pathogenetic forms of Burkitt lymphoma". Proceedings of the National Academy of Sciences. 85 (8): 2748–2752. doi:10.1073/pnas.85.8.2748. ISSN 0027-8424.
  2. ↑ Muñoz-Mármol, Ana M; et al. (2013-09). "MYC status determination in aggressive B-cell lymphoma: the impact of FISH probe selection". Histopathology. 63 (3): 418–424. doi:10.1111/his.12178. Check date values in: |date= (help)
  3. ↑ De Falco, Giulia; et al. (2015-10-09). "Burkitt lymphoma beyond MYC translocation: N-MYC and DNA methyltransferases dysregulation". BMC Cancer. 15 (1). doi:10.1186/s12885-015-1661-7. ISSN 1471-2407.
  4. ↑ Leucci, E; et al. (2008-09-18). "MYC translocation‐negative classical Burkitt lymphoma cases: an alternative pathogenetic mechanism involving miRNA deregulation". The Journal of Pathology. 216 (4): 440–450. doi:10.1002/path.2410. ISSN 0022-3417. line feed character in |title= at position 4 (help)
  5. ↑ Richter, Julia; et al. (2012-12). "Recurrent mutation of the ID3 gene in Burkitt lymphoma identified by integrated genome, exome and transcriptome sequencing". Nature Genetics. 44 (12): 1316–1320. doi:10.1038/ng.2469. ISSN 1546-1718. PMID 23143595. Check date values in: |date= (help)
  6. ↑ Mo, Jie; et al. (2021-02-24). "DDX3X: structure, physiologic functions and cancer". Molecular Cancer. 20 (1). doi:10.1186/s12943-021-01325-7. ISSN 1476-4598.
  7. ↑ Kl, Bunting; et al. (2013 Jun). "New effector functions and regulatory mechanisms of BCL6 in normal and malignant lymphocytes". doi:10.1016/j.coi.2013.05.003. PMC 4075446. PMID 23725655. Check date values in: |date= (help)CS1 maint: PMC format (link)
  8. ↑ Zani, V. J.; et al. (1996-04-15). "Molecular cloning of complex chromosomal translocation t(8;14;12)(q24.1;q32.3;q24.1) in a Burkitt lymphoma cell line defines a new gene (BCL7A) with homology to caldesmon". Blood. 87 (8): 3124–3134. ISSN 0006-4971. PMID 8605326.
  9. ↑ Pighi, Chiara; et al. (2015-12-03). "FBXO11, a Regulator of BCL6 Stability, Is Recurrently Mutated in Burkitt Lymphoma". Blood. 126 (23): 3673–3673. doi:10.1182/blood.v126.23.3673.3673. ISSN 0006-4971.
  10. ↑ Zhou, Peixun; et al. (2019-07-23). "Sporadic and endemic Burkitt lymphoma have frequent FOXO1 mutations but distinct hotspots in the AKT recognition motif". Blood Advances. 3 (14): 2118–2127. doi:10.1182/bloodadvances.2018029546. ISSN 2473-9537. PMC 6650741. PMID 31300419.
  11. ↑ Love, Cassandra; et al. (2012-12). "The genetic landscape of mutations in Burkitt lymphoma". Nature Genetics. 44 (12): 1321–1325. doi:10.1038/ng.2468. ISSN 1546-1718. PMC 3674561. PMID 23143597. Check date values in: |date= (help)
  12. ↑ Love, Cassandra; et al. (2012-12). "The genetic landscape of mutations in Burkitt lymphoma". Nature Genetics. 44 (12): 1321–1325. doi:10.1038/ng.2468. ISSN 1546-1718. PMC 3674561. PMID 23143597. Check date values in: |date= (help)
  13. ↑ Shannon-Lowe, Claire; et al. (2017-10-19). "Epstein-Barr virus-associated lymphomas". Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 372 (1732). doi:10.1098/rstb.2016.0271. ISSN 1471-2970. PMC 5597738. PMID 28893938.
  14. ↑ Chau, Charles M.; et al. (2006-06-15). "Regulation of Epstein-Barr Virus Latency Type by the Chromatin Boundary Factor CTCF". Journal of Virology. 80 (12): 5723–5732. doi:10.1128/JVI.00025-06. ISSN 0022-538X. PMC 1472585. PMID 16731911.CS1 maint: PMC format (link)
  15. ↑ Love, Cassandra; et al. (2012-12). "The genetic landscape of mutations in Burkitt lymphoma". Nature Genetics. 44 (12): 1321–1325. doi:10.1038/ng.2468. ISSN 1546-1718. PMC 3674561. PMID 23143597. Check date values in: |date= (help)
  16. ↑ Aggarwal, Mohit; et al. (2008-09-26). "TCL1A expression delineates biological and clinical variability in B-cell lymphoma". Modern Pathology. 22 (2): 206–215. doi:10.1038/modpathol.2008.148. ISSN 0893-3952.
  17. ↑ Küppers, Ralf (2005-04). "Mechanisms of B-cell lymphoma pathogenesis". Nature Reviews Cancer. 5 (4): 251–262. doi:10.1038/nrc1589. ISSN 1474-175X. Check date values in: |date= (help)
  18. ↑ Schmitz, Roland; et al. (2012-10-04). "Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics". Nature. 490 (7418): 116–120. doi:10.1038/nature11378. ISSN 1476-4687. PMC 3609867. PMID 22885699.
  19. ↑ Schmitz, Roland; et al. (2012-10-04). "Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics". Nature. 490 (7418): 116–120. doi:10.1038/nature11378. ISSN 1476-4687. PMC 3609867. PMID 22885699.
  20. ↑ Shannon-Lowe, Claire; et al. (2017-10-19). "Epstein-Barr virus-associated lymphomas". Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 372 (1732). doi:10.1098/rstb.2016.0271. ISSN 1471-2970. PMC 5597738. PMID 28893938.
  21. ↑ Schmitz, Roland; et al. (2012-10-04). "Burkitt lymphoma pathogenesis and therapeutic targets from structural and functional genomics". Nature. 490 (7418): 116–120. doi:10.1038/nature11378. ISSN 1476-4687. PMC 3609867. PMID 22885699.
  22. ↑ Shannon-Lowe, Claire; et al. (2017-10-19). "Epstein-Barr virus-associated lymphomas". Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences. 372 (1732). doi:10.1098/rstb.2016.0271. ISSN 1471-2970. PMC 5597738. PMID 28893938.


Notes

*Primary authors will typically be those that initially create and complete the content of a page.  If a subsequent user modifies the content and feels the effort put forth is of high enough significance to warrant listing in the authorship section, please contact the Associate Editor or other CCGA representative.  When pages have a major update, the new author will be acknowledged at the beginning of the page, and those who contributed previously will be acknowledged below as a prior author.

Prior Author(s):


*Citation of this Page: “Burkitt lymphoma”. Compendium of Cancer Genome Aberrations (CCGA), Cancer Genomics Consortium (CGC), updated 02/11/2025, https://ccga.io/index.php/HAEM5:Burkitt_lymphoma.

Other Sections

Cancer Sub-Classification/Subtype


Burkitt lymphoma


Definition/Description of Disease


Burkitt lymphoma is a clinically aggressive but curable lymphoma with three aetiologically distinct subtypes, these being endemic, sporadic and immunodeficiency-associated Burkitt lymphoma. Infection with Epstein-Bar virus (EBV), also known as human herpesvirus 4, is seen all three subtypes, but is most strongly associated with endemic Burkitt Lymphoma. Detectable EBV infection is not essential for diagnosis, and may not be the cause in all cases; the frequency of EBV infection varies according to the epidemiological subtype of Burkitt lymphoma. The clinical presentation often involves extra-nodal sites but the disease can also present as an acute leukaemia.


Synonyms/Terminology

Burkitt cell leukaemia

Obsolete terms

  • Burkitt tumour
  • Malignant lymphoma, undifferentiated, Burkitt type
  • Malignant lymphoma, small non-cleaved, Burkitt type


Epidemiology/Prevalence


Endemic Burkitt lymphoma

  • Highly associated with Epstein-Barr virus (EBV genome present in >95% of neoplastic cells) and Plasmodium falciparum infection
  • Occurs in equatorial Africa and Papua New Guinea, with a distribution that overlaps with regions endemic for malaria
  • Demographics: peak incidence among children aged 4-7 years
  • The incidence is higher in males than females, at a ratio of 2:1

Sporadic Burkitt lymphoma

  • EBV detected in 20-30% of cases, proportion of EBV positive cases appears to be much higher in adults than in children
  • Occurs worldwide
  • Western Europe and USA: low incidence, accounting for only 1-2% of all lymphomas overall (30-50% of all childhood lymphomas)
  • South America and northern Africa: incidence between that of sporadic Burkitt lymphoma in developed countries and endemic Burkitt lymphoma
  • Demographics: peak incidence among children and young adults (median age 30 years, with separate incidence peak in elderly patients)
  • M:F 2-3:1

Immunodeficiency-associated Burkitt lymphoma

  • EBV detected in 25-40% of cases
  • Associated with HIV infection (most commonly) and other forms of immunosuppression
  • Occurs early in the course of HIV infection, when CD4+ T cell counts are still high
  • Increased risk of developing Burkitt lymphoma has persisted across the pre-and post-HAART eras
Retrieved from "https://ccga.io/index.php?title=HAEM5:Burkitt_lymphoma&oldid=16286"