Splicing factor mutations in MDS RARS and MDS/MPN-RS-T Review uri icon


MeSH Major

  • Epigenesis, Genetic
  • Gene Expression Regulation, Neoplastic
  • Hematologic Neoplasms


  • Spliceosomal mutations, especially mutations in SF3B1, are frequently (>80%) identified in patients with refractory anemia with ringed sideroblasts (RARS) and myelodysplastic/myeloproliferative neoplasms with ringed sideroblasts and thrombocytosis (MDS/MPN-RS-T; previously known as RARS-T), and SF3B1 mutations have a high positive predictive value for disease phenotype with ringed sideroblasts. These observations suggest that SF3B1 mutations play important roles in the pathogenesis of these disorders and formation of ringed sideroblasts. Here we will review recent insights into the molecular mechanisms of mis-splicing caused by mutant SF3B1 and the pathogenesis of RSs in the context of congenital sideroblastic anemia as well as RARS with SF3B1 mutations. We will also discuss therapy of SF3B1 mutant MDS, including novel approaches.

publication date

  • May 2, 2017



  • Review



  • eng

Digital Object Identifier (DOI)

  • 10.1007/s12185-017-2242-0

PubMed ID

  • 28466384

Additional Document Info

start page

  • 720

end page

  • 731