Burkitt Lymphoma: Interpreting FISH Testing for Gene Rearrangements

Creator(s)

Purva Sharma, East Tennessee State University
Sakshi Singal, East Tennessee State UniversityFollow
Patrick Costello, East Tennessee State University
Koyamangalath Krishnan, Division of Medical Oncology, Department of Internal Medicine, East Tennessee State University, Johnson City, Tennessee, USA.

Document Type

Article

Publication Date

2-8-2022

Description

Burkitt lymphoma is a highly aggressive B cell non-Hodgkin's lymphoma characterised by translocation of 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 translocation initially on BAP testing. Additional testing with dual FISH probe detected translocation. FISH testing using BAPs alone may be falsely negative for translocations creating a diagnostic challenge and compromising the treatment approach and assessment of prognosis.

Citation Information

Sharma, Purva; Singal, Sakshi; Costello, Patrick; and Krishnan, Koyamangalath, "Burkitt Lymphoma: Interpreting FISH Testing for Gene Rearrangements" (2022). ETSU Faculty Works. 157.
https://dc.etsu.edu/etsu-works-2/157