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.

Various

High-risk mutation. Contributes to multi-mutated stem cell disease phenotype.

Also found in: AML (~10-15%), MDS (~10%)

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

emerging·6 studies