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

Richard K. Yang, Gokce A. Toruner, Wei Wang, Hong Fang, Ghayas C. Issa, Lulu Wang, Andrés E. Quesada, Beenu Thakral, Keyur P. Patel, Guang Peng, Shujuan Liu, C. Cameron Yin, Gautam Borthakur, Zhenya Tang, Sa A. Wang, Roberto N. Miranda, Joseph D. Khoury, L. Jeffrey Medeiros, Guilin Tang

Research output: Contribution to journalArticlepeer-review

4 Scopus citations

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 languageEnglish (US)
Article number5354
JournalCancers
Volume13
Issue number21
DOIs
StatePublished - Nov 1 2021
Externally publishedYes

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

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