Serine/arginine-rich splicing factor 2
(SRSF2) is a gene that codes for one of
the several serine/arginine-rich splicing
factors. SRSF2 is a member of the spliceosome and is involved in 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. SRSF2. My Cancer
(Updated December 7).
Last Updated: December 7, 2015
SRSF2 in Myelodysplastic Syndromes
SRSF2 mutations occur in 7.4% of MDS (COSMIC). SFSR2 mutations are most often observed in refractory
cytopenia with multilineage dysplasia (RCMD) and refractory anemia with excess blasts
(RAEB), two subtypes of high risk MDS (Cazzola, Della Porta, and
Malcovati 2013). SRSF2 mutations are also common in patients with CMML, where they
often co-occur with TET2 mutations (Cazzola, Della Porta, and Malcovati
2013). The role of SRSF2 mutations in MDS is not yet well understood (Visconte et al.
2012). As in SF3B1, there is a mutational hotspot in SRSF2, involving an
amino acid change at P95, found in the vast majority of all cases of SRSF2 mutations in MDS.
SRSF2 mutations have been associated with
less favorable overall survival and a higher likelihood of transformation to AML (Damm et al.
2012; NCCN 2014; Thol et al.
Suggested Citation: Strickland, S., A. Kim. 2014. SRSF2 in Myelodysplastic
Syndromes. My Cancer Genome https://www.padiracinnovation.org/content/disease/myelodysplastic-syndromes/srsf2/
(Updated September 23).
Last Updated: September 23, 2014
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