Detection of a novel CBFB/MYH11 variant fusion transcript (K-type) showing partial insertion of exon 6 of CBFB gene using two commercially available multiplex RT-PCR kits

Cancer Genet Cytogenet. 2009 Mar;189(2):87-92. doi: 10.1016/j.cancergencyto.2008.10.012.

Abstract

We report on a 20-year-old man with acute myeloid leukemia (AML) showing a distinct novel CBFB/MYH11 variant fusion transcript. Initial results of bone marrow, chromosome, and flow cytometric analyses were not in accordance with the diagnosis of acute myelomonocytic leukemia with eosinophilia (AML-M4Eo) or AML with a CBFB/MYH11 rearrangement. However, results from 2 commercially available multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) tests repeatedly showed an unusual PCR product from his bone marrow specimen. Not only does this case show a partial insertion of exon 6 of the CBFB (ENSG00000067955) gene, but it also involves novel breakpoints within both exon 6 of the CBFB gene and exon 28 (previously exon 7) of the MYH11 (ENSG00000133392) gene, which is regarded as a previously non-reported, new type (K-type) of CBFB/MYH11 fusion transcript. In addition, our study result was in agreement with the recent report of Schnittger et al. that rare fusion transcripts of CBFB/MYH11 are correlated with an atypical cytomorphology and other aberrant characteristics. Therefore, multiplex RT-PCR and sequence analysis of these atypical products should be performed to diagnose atypical AML with CBFB/MYH11 rearrangement, to predict prognosis of these patients as well as to elucidate the molecular mechanism.

Publication types

  • Case Reports
  • Comparative Study
  • Evaluation Study

MeSH terms

  • Base Sequence
  • Core Binding Factor beta Subunit / genetics*
  • Cytogenetic Analysis
  • DNA Mutational Analysis / instrumentation
  • DNA Mutational Analysis / methods
  • Exons
  • Genes, Neoplasm
  • Humans
  • Leukemia, Myeloid, Acute / diagnosis
  • Leukemia, Myeloid, Acute / genetics*
  • Male
  • Molecular Sequence Data
  • Mutagenesis, Insertional*
  • Myosin Heavy Chains / genetics*
  • Reagent Kits, Diagnostic*
  • Recombinant Fusion Proteins / genetics
  • Reverse Transcriptase Polymerase Chain Reaction / methods*
  • Young Adult

Substances

  • CBFB protein, human
  • Core Binding Factor beta Subunit
  • MYH11 protein, human
  • Reagent Kits, Diagnostic
  • Recombinant Fusion Proteins
  • Myosin Heavy Chains