SRSF2
Genetic findings for SRSF2 in Systemic Mastocytosis
Variants (1)
| Variant | Type | Frequency | Significance |
|---|---|---|---|
| Various (most commonly P95H/L/R) | somatic | ~43% of advanced SM | Splicing factor mutation. Strongest individual predictor of inferior survival in advanced SM (HR 5.9). Part of the S/A/R gene panel. |
Clinical implications
Various (most commonly P95H/L/R)
High-risk mutation. Predicts poor prognosis and may predict inferior response to midostaurin.
Also found in: MDS/CMML (~15-50%)
Related hypotheses
Hereditary alpha-tryptasemia (HαT) modifies SM phenotype, increasing mediator symptoms and anaphylaxis risk independent of mast cell burden
40emerging·6 studies