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Int J Hematol. 2017 Jun;105(6):720-731. doi: 10.1007/s12185-017-2242-0. Epub 2017 May 2.

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

Author information

1
Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, Weill Cornell Medical College, Zuckerman 601, 408 East 69th Street, New York, NY, 10065, USA.
2
Human Oncology and Pathogenesis Program, Memorial Sloan Kettering Cancer Center, Weill Cornell Medical College, Zuckerman 601, 408 East 69th Street, New York, NY, 10065, USA. abdelwao@mskcc.org.
3
Leukemia Service, Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, NY, 10065, USA. abdelwao@mskcc.org.

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.

KEYWORDS:

MDS; RARS; Ringed sideroblast; SF3B1; Splicing

PMID:
28466384
DOI:
10.1007/s12185-017-2242-0

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