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.
Original language | English (US) |
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Article number | 5354 |
Journal | Cancers |
Volume | 13 |
Issue number | 21 |
DOIs | |
State | Published - Nov 1 2021 |
Externally published | Yes |
Keywords
- Additional chromo-some16 aberrations (AC16As)
- Atypical findings
- CBFB rearrangement
- CBFB-MYH11
- FISH
- Next-generation sequencing (NGS)
- RT-PCR
ASJC Scopus subject areas
- Oncology
- Cancer Research