Splicing factor mutations in MDS RARS and MDS/MPN-RS-T Journal Article


Authors: Yoshimi, A.; Abdel-Wahab, O.
Article Title: Splicing factor mutations in MDS RARS and MDS/MPN-RS-T
Abstract: 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. © 2017, The Japanese Society of Hematology.
Keywords: splicing; mds; sf3b1; rars; ringed sideroblast
Journal Title: International Journal of Hematology
Volume: 105
Issue: 6
ISSN: 0925-5710
Publisher: Springer Japan KK  
Date Published: 2017-06-01
Start Page: 720
End Page: 731
Language: English
DOI: 10.1007/s12185-017-2242-0
PROVIDER: scopus
PUBMED: 28466384
DOI/URL:
Notes: Review -- Export Date: 2 June 2017 -- Source: Scopus
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  1. Akihide   Yoshimi
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