Splicing factor 3b, subunit 1, 155kDa (SF3B1)
is a gene that codes for part of the splicing factor 3b protein complex (Gene 2014). The
complex is a member of the spliceosome and is involved in transcription and mRNA processing (Gene 2014).
Spliceosome mutations are observed in MDS, chronic lymphocytic leukemia (CLL), AML, and chronic
myelomonocytic leukemia (CMML), and these mutations can cause abnormal expression patterns of
some genes involved in cancer pathogenesis (Chesnais et al.
Suggested Citation: Strickland, S., A. Kim. 2015. SF3B1. My Cancer
(Updated December 7).
Last Updated: December 7, 2015
SF3B1 in Myelodysplastic Syndromes
SF3B1 mutations occur in 19.9% of MDS (COSMIC). SF3B1 mutations are only observed in refractory anemia with
ring sideroblasts (RARS), a type of MDS, and a subtype of MDS/MPN known as refractory anemia
with ring sideroblasts and thrombocytosis (RARS-T; Cazzola, Della
Porta, and Malcovati 2013). SF3B1 mutations are involved in ring sideroblast
Della Porta, and Malcovati 2013; Malcovati et al.
2011). Sideroblasts are red blood cell precursor cells, and ring sideroblasts are
abnormal sideroblasts characterized by a ring of iron particles around the cell nucleus.
SF3B1 contains a common K700E mutation as well as other recurrent mutations in homeodomains
suggesting aberrant function of the gene.
SF3B1 mutations have been associated with
favorable overall survival and a lower likelihood of transformation to AML (Cazzola, Della
Porta, and Malcovati 2013; Malcovati et al. 2011).
Suggested Citation: Strickland, S., A. Kim. 2014. SF3B1 in Myelodysplastic
Syndromes. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/sf3b1/
(Updated September 23).
Last Updated: September 23, 2014
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