Type J CBFbeta/MYH11 transcript in the M4Eo subtype of acute myeloid leukemia

Hematology. 2003 Apr;8(2):115-7. doi: 10.1080/1024533031000084259.

Abstract

Acute myeloid leukemia (AML) carrying inversion or translocation of chromosome 16 is usually associated with the FAB M4Eo morphological subtype and belongs to AMLs with a relatively favorable prognosis. At the molecular level, it is associated with a disease-specific fusion gene, CBFbeta/MYH11. Previously, 10 different types of CBFbeta/MYH11 fusion transcripts have been described in the literature, 7 of them are still known as unique cases. In the current study, peripheral blood and/or bone marrow samples from 265 AML patients were tested for the presence of the CBFbeta/MYH11 fusion using RT-PCR and 12 (4.5%) positive cases were identified. The most common type A CBFbeta/MYH11 transcript was confirmed in 11 patients. The transcript in the remaining one (a 71-year-old female) was different and sequence analysis allowed us to classify it as CBFbeta/MYH11 type J. In contrast to the first type J case previously reported from Australia, this patient exhibited a typical FAB M4Eo morphology. The evidence of the second case indicates that the type J breakage might be a non-random event within the MYH11 gene.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Aged
  • Biomarkers, Tumor / chemistry
  • Biomarkers, Tumor / genetics*
  • Chromosome Breakage
  • Chromosomes, Human, Pair 16 / genetics
  • Chromosomes, Human, Pair 16 / ultrastructure
  • Cohort Studies
  • Female
  • Humans
  • Leukemia, Myelomonocytic, Acute / genetics*
  • Middle Aged
  • Neoplasms, Second Primary / genetics
  • Oncogene Proteins, Fusion / chemistry
  • Oncogene Proteins, Fusion / classification
  • Oncogene Proteins, Fusion / genetics*
  • RNA, Messenger / genetics
  • RNA, Neoplasm / genetics
  • Reverse Transcriptase Polymerase Chain Reaction

Substances

  • Biomarkers, Tumor
  • CBFbeta-MYH11 fusion protein
  • Oncogene Proteins, Fusion
  • RNA, Messenger
  • RNA, Neoplasm