Burkitt lymphoma: interpreting FISH testing for MYC gene rearrangements. Issue 2 (8th February 2022)

• Record Type: Journal Article
• Authors: Sharma, Purva; Singal, Sakshi; Costello, Patrick; Krishnan, Koyamangalath
• Is Part Of: BMJ case reports. Volume 15:Issue 2(2022)
• Publication Date: 2022-02-08
• Subjects: pathology -- haematology (drugs and medicines) -- carcinogenesis; Medicine -- Case studies -- Periodicals; 610.5
• DOI: 10.1136/bcr-2021-246687
• Languages: English
• ISSNs: 1757-790X

Abstract

Abstract : Burkitt lymphoma is a highly aggressive B cell non-Hodgkin's lymphoma characterised by translocation of MYC gene on chromosome 8. This translocation is usually detected by fluorescent in-situ hybridisation (FISH) studies as part of routine diagnostic work-up and prognostication. FISH testing is commonly done with the break-apart probe (BAP). This case illustrates how this testing can be falsely negative. This patient is a young male diagnosed with Stage I low-risk Burkitt with FISH negative for MYC translocation initially on BAP testing. Additional testing with dual FISH probe detected MYC/IGH translocation. FISH testing using BAPs alone may be falsely negative for MYC translocations creating a diagnostic challenge and compromising the treatment approach and assessment of prognosis.