ASXL1

Genetic findings for ASXL1 in Systemic Mastocytosis

Variants (1)

Variant	Type	Frequency	Significance
Various truncating mutations	somatic	~29% of advanced SM	Epigenetic regulator (polycomb group protein). Independently predicts inferior survival (HR 3.4). Part of the S/A/R gene panel.

Various truncating mutations

High-risk mutation. Independently predictive of inferior survival alongside CBL.

Also found in: MDS/MPN/AML (~10-25%)

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

emerging·6 studies