Identification of a novel CBFB-MYH11 transcript: implications for RT-PCR diagnosis

Hematol J. 2001;2(3):206-9. doi: 10.1038/sj.thj.6200103.

Abstract

Introduction: The chromosome rearrangements inv(16)(p13q22) or t(16;16)(p13;q22) are present in approximately 10% of all cases with de novo acute myeloid leukemia and define a subgroup with a favorable prognosis. Both aberrations result in a CBFB-MYH11 fusion gene that can be detected by RT-PCR.

Patients and methods: To date, a total of 10 different in-frame CBFB-MYH11 fusion transcripts have been identified. A newly described transcript can not be amplified with the commonly used PCR primers since the MYH11 junction is located outside the amplified region (MYH11 cDNA position 2134).

Results: We describe here a robust two-step RT-PCR assay that reliably detects all known CBFB-MYH11 transcripts types, including the new variant.

Conclusion: Because all previously established RT-PCR protocols may miss the new CBFB-MYH11 transcript, we propose to use the improved RT-PCR approach described here for the reliable detection of all known CBFB-MYH11 fusion transcripts.

Publication types

  • Case Reports

MeSH terms

  • Biomarkers, Tumor / genetics*
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 16 / genetics*
  • Chromosomes, Human, Pair 16 / ultrastructure
  • DNA Mutational Analysis
  • DNA Primers
  • Humans
  • Leukemia, Myelomonocytic, Acute / diagnosis
  • Leukemia, Myelomonocytic, Acute / genetics*
  • Male
  • Middle Aged
  • Oncogene Proteins, Fusion / genetics*
  • Prognosis
  • Reverse Transcriptase Polymerase Chain Reaction*
  • Translocation, Genetic

Substances

  • Biomarkers, Tumor
  • CBFbeta-MYH11 fusion protein
  • DNA Primers
  • Oncogene Proteins, Fusion