Gene
RUNX1
1 variant(s) documented across Systemic Mastocytosis
Variants
| Variant | Type | Frequency in disease | Significance | Also found in |
|---|---|---|---|---|
| Various | somatic | ~23% of advanced SM | Transcription factor essential for hematopoiesis. Mutations predict inferior survival (HR 2.4). Part of the S/A/R gene panel. | AML (~10-15%); MDS (~10%) |
Clinical implications
Various
High-risk mutation. Contributes to multi-mutated stem cell disease phenotype.
Testing: next-generation sequencing
Related hypotheses
Hereditary alpha-tryptasemia (HαT) modifies SM phenotype, increasing mediator symptoms and anaphylaxis risk independent of mast cell burden
40emerging·6 studies