SRSF2

Overview

SRSF2 encodes a serine/arginine-rich splicing factor that regulates pre-mRNA splicing. Somatic mutations in SRSF2 are recurrent drivers in myeloid malignancies, particularly MDS and chronic myelomonocytic leukemia (CMML). In MDS, SRSF2 mutations are associated with megakaryocyte dysplasia and frequently co-occur with other cohesin and splicing-factor mutations.

Alterations observed in the corpus

• SRSF2 mutations are associated with megakaryocyte dysplasia in the MDS discovery cohort (Tokyo), though the association is confounded by co-occurrence with STAG2 mutations in multivariable analysis PMID:21909114
• SRSF2 is a recurrent spliceosome-complex gene mutated in AML (14% combined prevalence with U2AF1 and SF3B1) PMID:23634996
• SRSF2 somatic splicing-factor mutation in 2 MPN patients; co-mutated with TET2, IDH1, and ASXL1 — a co-mutation pattern echoing MDS PMID:24325359
• Splicing factor in AML chromatin-spliceosome subgroup; HR 1.4 (95% CI 1.1–1.7), P=0.003, q=0.03; additive adverse effect with ASXL1; associated with ELN intermediate-risk reclassification to adverse risk PMID:27276561
• Covered by the 8-gene AmpliSeq amplicon panel (TP53, DNMT3A, IDH1, IDH2, ASXL1, SRSF2, U2AF1, SF3B1) and observed in AML/MDS patients on the 10-day decitabine trial; not reported as independently predictive of decitabine response. PMID:27959731

Cancer types (linked)

• MDS: SRSF2 mutations are recurrent and associate with megakaryocytic dysplasia features; confounded by STAG2 co-mutation in multivariate analysis PMID:21909114

Co-occurrence and mutual exclusivity

• Co-occurs with STAG2, RUNX1, SETBP1, SF3B1, and TP53 mutations in the MDS Tokyo cohort; SRSF2-STAG2 co-mutation confounds individual morphologic associations PMID:21909114

Therapeutic relevance

• No direct therapeutic implications established in the corpus.

Open questions

• The morphologic association of SRSF2 mutations with megakaryocyte dysplasia may be partly driven by STAG2 co-mutation; independent SRSF2-specific morphologic signatures require further study.

Sources

• PMID:21909114

This page was processed by entity-page-writer on 2026-05-15. - PMID:23634996

This page was processed by entity-page-writer on 2026-05-15. - PMID:24325359

This page was processed by entity-page-writer on 2026-05-15. - PMID:27276561

This page was processed by entity-page-writer on 2026-05-15. - PMID:27959731

This page was processed by entity-page-writer on 2026-05-15.