Gene
TET2
1 variant(s) documented across Systemic Mastocytosis
Variants
| Variant | Type | Frequency in disease | Significance | Also found in |
|---|---|---|---|---|
| Various loss-of-function | somatic | ~47% of advanced SM | Most frequently mutated gene in advanced SM besides KIT. Epigenetic regulator involved in DNA demethylation. Unlike S/A/R mutations, TET2 mutations do not independently predict inferior survival. | MDS/MPN/AML (~10-30%); Clonal hematopoiesis of indeterminate potential (Common) |
Clinical implications
Various loss-of-function
Common but not high-risk. Part of the multi-mutated landscape of advanced SM.
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