Gene
ASXL1
1 variant(s) documented across Systemic Mastocytosis
Variants
| Variant | Type | Frequency in disease | Significance | Also found in |
|---|---|---|---|---|
| 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. | MDS/MPN/AML (~10-25%) |
Clinical implications
Various truncating mutations
High-risk mutation. Independently predictive of inferior survival alongside CBL.
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
Sources (3)
DetailsJawhar M et al. (2016) Additional mutations in SRSF2, ASXL1 and/or RUNX1 identify a high-risk group of patients with KIT D816V+ advanced systemic mastocytosisDOI ↗