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Genomic landscape of Epstein–Barr virus-positive extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue

Lookup NU author(s): Dr Christopher Bacon


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© 2021, The Author(s), under exclusive licence to United States & Canadian Academy of Pathology.Epstein–Barr virus (EBV)-positive extranodal marginal zone lymphomas of mucosa-associated lymphoid tissue (MALT lymphomas) were initially described in solid organ transplant recipients, and, more recently, in other immunodeficiency settings. The overall prevalence of EBV-positive MALT lymphomas has not been established, and little is known with respect to their genomic characteristics. Eight EBV-positive MALT lymphomas were identified, including 1 case found after screening a series of 88 consecutive MALT lymphomas with EBER in situ hybridization (1%). The genomic landscape was assessed in 7 of the 8 cases with a targeted high throughput sequencing panel and array comparative genomic hybridization. Results were compared to published data for MALT lymphomas. Of the 8 cases, 6 occurred post-transplant, 1 in the setting of primary immunodeficiency, and 1 case was age-related. Single pathogenic/likely pathogenic mutations were identified in 4 of 7 cases, including mutations in IRF8, BRAF, TNFAIP3, and SMARCA4. Other than TNFAIP3, these genes are mutated in <3% of EBV-negative MALT lymphomas. Copy number abnormalities were identified in 6 of 7 cases with a median of 6 gains and 2 losses per case, including 4 cases with gains in regions encompassing several IRF family or interacting genes (IRF2BP2, IRF2, and IRF4). There was no evidence of trisomies of chromosomes 3 or 18. In summary, EBV-positive MALT lymphomas are rare and, like other MALT lymphomas, are usually genetically non-complex. Conversely, while EBV-negative MALT lymphomas typically show mutational abnormalities in the NF-κB pathway, other than the 1 TNFAIP3-mutated case, no other NF-κB pathway mutations were identified in the EBV-positive cases. EBV-positive MALT lymphomas often have either mutations or copy number abnormalities in IRF family or interacting genes, suggesting that this pathway may play a role in these lymphomas.

Publication metadata

Author(s): Rea B, Liu Y-C, Maguire A, Soma LA, Bacon CM, Bayerl MG, Smith MH, Barrett MT, Swerdlow SH, Gibson SE

Publication type: Article

Publication status: Published

Journal: Modern Pathology

Year: 2021

Volume: 35

Pages: 938-945

Online publication date: 24/12/2021

Acceptance date: 15/12/2021

ISSN (print): 0893-3952

ISSN (electronic): 1530-0285

Publisher: Springer Nature


DOI: 10.1038/s41379-021-01002-6


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