23. Clinical and diagnostic challenges of atypical findings during fluorescence in situ hybridization (FISH) testing: CBFB breakapart FISH as an example

Abstract

Fluorescence in situ hybridization (FISH) has been widely used as a diagnostic and/or prognostic tool in the field of clinical laboratory diagnosis, especially in field of hematologic malignancies. However, atypical findings that are less or not encountered during an assay validation can pose diagnostic challenges. In this presentation, we'd like to share our experience using CBFB breakapart FISH as an example. From January 1, 2000 to May 31, 2021, a total of 2809 CBFB Breakapart FISH tests were performed in 1629 cases with acute myeloid leukemia (AML) in our institute, and 16.1% (n=262), 75.7% (n=1234) and 8.2% (n=133) cases were reported as positive, normal and abnormal respectively.