RUNX1
Genetic findings for RUNX1 in Systemic Mastocytosis
Variants (1)
| Variant | Type | Frequency | Significance |
|---|---|---|---|
| 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. |
Clinical implications
Various
High-risk mutation. Contributes to multi-mutated stem cell disease phenotype.
Also found in: AML (~10-15%), MDS (~10%)
Related hypotheses
Hereditary alpha-tryptasemia (HαT) modifies SM phenotype, increasing mediator symptoms and anaphylaxis risk independent of mast cell burden
40emerging·6 studies