Gene affected:
SRSF2 - Serine And Arginine Rich Splicing Factor 2

Clinical significance
SRSF2 is associated with poorer outcomes in MDS, AML and Myelofibrosis. No specific clinical action is indicated at this time, but splicing inhibitors are in early clinical trials.

Function of gene

SRSF2 forms part of the spliceosome complex and is important for splice-site selection, and both constitutive and alternative splicing. Spliceosome mutations are thought to promote malignancy through missplicing of genes involved in epigenetic regulation, transcription, and genome integrity.

NGS panel gene coverage

Exon 1


MDS (15-20%)
Less favourable outcomes and transformation to AML even in patients with low/Intermediate-1 risk scores (IPSS). Associated with MDS with multilineage dysplasia and MDS with excess blasts (RAEB).
AML (5-10%)
Usually those AML with myelodysplasia-related changes and appears to be associated with poorer outcome.
CMML (~50%)
No prognostic implications have been demonstrated.
MFS (15-20%)
Associated with decreased overall survival.
Clonal Haematopoiesis of Indeterminate Prognosis (CHIP) (2%)
Significance unclear

Associated genetic features: Mutations in SRSF2 are associated with TET2 mutations in myeloid neoplasms with monocytosis. They also have associations with STAG2 and IDH1/IDH2 in MDS/AML-MDS phenotypes.


GeneWiki link:
Gene Wiki entry for SRSF2
1 SRSF2 in MDS
2 Prognosis of SRSF2 mutation