Gene

SRSF2

1 variant(s) documented across Systemic Mastocytosis

Variants

VariantTypeFrequency in diseaseSignificanceAlso found in
Various (most commonly P95H/L/R)somatic~43% of advanced SMSplicing factor mutation. Strongest individual predictor of inferior survival in advanced SM (HR 5.9). Part of the S/A/R gene panel.MDS/CMML (~15-50%)

Clinical implications

Various (most commonly P95H/L/R)

High-risk mutation. Predicts poor prognosis and may predict inferior response to midostaurin.

Testing: next-generation sequencing

Related hypotheses

Hereditary alpha-tryptasemia (HαT) modifies SM phenotype, increasing mediator symptoms and anaphylaxis risk independent of mast cell burden

40
emerging·6 studies

Sources (2)

DetailsJawhar M et al. (2016) Additional mutations in SRSF2, ASXL1 and/or RUNX1 identify a high-risk group of patients with KIT D816V+ advanced systemic mastocytosisDOI ↗
DetailsPardanani A (2021) Systemic mastocytosis in adults: 2021 Update on diagnosis, risk stratification and managementDOI ↗