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. |
Clinical implications
Various truncating mutations
High-risk mutation. Independently predictive of inferior survival alongside CBL.
Also found in: MDS/MPN/AML (~10-25%)
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 mastocytosis · LeukemiaDOI ↗