RT-PCR diagnosis of patients with acute nonlymphocytic leukemia and inv(16)(p13q22) and identification of new alternative splicing in CBFB-MYH11 transcripts

Blood. 1995 Jul 1;86(1):277-82.

Abstract

As acute nonlymphocytic leukemia (ANLL) with inv(16) (p13q22) or t(16;16)(p13;q22) has been shown to result from the fusion of transcription factor subunit core binding factor (CBFB) to a myosin heavy chain (MYH11), we sought to design methods to detect this rearrangement using reverse transcriptase-polymerase chain reaction (RT-PCR). In all of 27 inv(16)(p13q22) and four t(16;16)(p13;q22) cases tested, a chimeric CBFB-MYH11 transcript coding for an in-frame fusion protein was detected. In a more extensive RT-PCR analysis with different primer pairs, we detected a second new chimeric CBFB-MYH11 transcript in 10 of 11 patients tested. The CBFB-MYH11 reading frame of the second transcript was maintained in one patient but not in the others. We show that the different CBFB-MYH11 transcripts in one patient arise from alternative splicing. Translation of the transcript in which the CBFB-MYH11 reading frame is not maintained leads to a slightly truncated CBFB protein.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Base Sequence
  • Child
  • Chromosome Inversion*
  • Chromosomes, Human, Pair 16 / ultrastructure*
  • Core Binding Factors
  • DNA-Binding Proteins / biosynthesis
  • DNA-Binding Proteins / genetics*
  • Female
  • Gene Expression Regulation, Leukemic*
  • Humans
  • Leukemia, Myeloid, Acute / diagnosis*
  • Male
  • Middle Aged
  • Molecular Sequence Data
  • Myosins / biosynthesis
  • Myosins / genetics*
  • Neoplasm Proteins*
  • Oncogene Proteins, Fusion / biosynthesis
  • Oncogene Proteins, Fusion / genetics*
  • Polymerase Chain Reaction*
  • Protein Biosynthesis
  • RNA Splicing*
  • Transcription Factors / biosynthesis
  • Transcription Factors / genetics*
  • Transcription, Genetic

Substances

  • Core Binding Factors
  • DNA-Binding Proteins
  • Neoplasm Proteins
  • Oncogene Proteins, Fusion
  • Transcription Factors
  • Myosins