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Simple Summary  The inv(16)/t(16;16) AML is a disease that is considered relatively easy and straightforward to be diagnosed in the clinical laboratories. Up to date, CBFB FISH and/or CBFB-MYH11 RT-PCR are still the major diagnostic assays utilized in the clinical laboratories. However, incidental CBFB FISH findings and their implication in clinical laboratory diagnostics and management, especially in the era of next-generation sequencing (NGS)-based methods, have not been systemically investigated. In this study, we systemically studied over 1600 AML cases tested with CBFB FISH. Over 5% of cases with a confirmed  CBFB  rearrangement were challenging, including those with discrepant FISH and RT-PCR results and/or atypical FISH findings. Meanwhile, atypical FISH findings usually indicate additional chromosome 16 aberrations (AC16As) overlooked by other methods including RT-PCR and almost all NGS-based methods if following the published parameters. The information revealed in this study will be useful for further workup and interpreting atypical CBFB FISH findings and confirmation of inv(16)/t(16;16) AML diagnosis and related treatment, as well as selection of samples to better validate NGS-based new diagnostic methods.    Abstract  Fluorescence in situ hybridization (FISH) is a confirmatory test to establish a diagnosis of inv(16)/t(16;16) AML. However, incidental findings and their clinical diagnostic implication have not been systemically studied. We studied 1629 CBFB FISH cases performed in our institution, 262 (16.1%), 1234 (75.7%), and 133 (8.2%) were reported as positive, normal, and abnormal, respectively. The last included  CBFB  copy number changes ( n  = 120) and atypical findings such as 3′CBFB deletion ( n  = 11), 5′CBFB deletion ( n  = 1), and 5′ CBFB  gain ( n  = 1). Correlating with  CBFB-MYH11  RT-PCR results, totally 271  CBFB  rearrangement cases were identified, including five with discrepancies between FISH and RT-PCR due to new partner genes ( n  = 3), insertion ( n  = 1), or rare  CBFB-MYH11  variant ( n  = 1) and eight with  3′CBFB  deletion. All cases with atypical findings and/or discrepancies presented clinical diagnostic challenges. Correlating FISH signal patterns and karyotypes, additional chromosome 16 aberrations (AC16As) show impacts on the re-definition of a complex karyotype and prognostic prediction. The  CBFB  rearrangement but not all AC16As will be detected by NGS-based methods. Therefore, FISH testing is currently still needed to provide a quick and straightforward confirmatory inv(16)/t(16;16) AML diagnosis and additional information related to clinical management.

cancers

CBFB Break-Apart FISH Testing: An Analysis of 1629 AML Cases with a Focus on Atypical Findings and Their Implications in Clinical Diagnosis and Management