[Molecular mechanisms of myeloid malignancies]

Rinsho Ketsueki. 2021;62(8):883-891. doi: 10.11406/rinketsu.62.883.
[Article in Japanese]

Abstract

Almost all genetic abnormalities involved in the occurrence and progression of myelodysplastic syndromes (MDS) and acute myeloid leukemia have been reported within the last decade. The molecular mechanisms of these genetic changes involved in causing dysfunctions in hematopoietic cells have also been clarified in recent years. For MDS, gene mutations of RNA splicing factors and cohesin complex have been shown to trigger not only aberrant RNA splicing or decreased chromatin insulation but also DNA damage response and transcriptional dysregulation through inefficient interaction between promoters and enhancers. Consequently, these newly identified disease-causing mechanisms may be considered potential therapeutic targets.

Keywords: Cohesin complex; Myelodysplastic syndromes; RNA polymerase pausing; RNA splicing factors.

MeSH terms

  • Humans
  • Leukemia, Myeloid, Acute* / genetics
  • Mutation
  • Myelodysplastic Syndromes* / genetics
  • RNA Splicing
  • RNA Splicing Factors / genetics

Substances

  • RNA Splicing Factors