TET2
Genetic findings for TET2 in Systemic Mastocytosis
Variants (1)
| Variant | Type | Frequency | Significance |
|---|---|---|---|
| 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. |
Clinical implications
Various loss-of-function
Common but not high-risk. Part of the multi-mutated landscape of advanced SM.
Also found in: MDS/MPN/AML (~10-30%), Clonal hematopoiesis of indeterminate potential (Common)
Related hypotheses
Hereditary alpha-tryptasemia (HαT) modifies SM phenotype, increasing mediator symptoms and anaphylaxis risk independent of mast cell burden
40emerging·6 studies