TET2mutant
TET2mutant refers to cells or samples that carry pathogenic variants in the TET2 gene. TET2 encodes the ten-eleven translocation 2 enzyme, which participates in DNA demethylation by converting 5-methylcytosine to 5-hydroxymethylcytosine and other oxidized forms. Most TET2 mutations are loss-of-function and can alter the activity of the TET2 protein, leading to changes in epigenetic marks and gene expression.
In hematopoietic cells, TET2 mutations can promote clonal expansion and skew differentiation, contributing to abnormal hematopoiesis.
Clinical significance varies by disease context. TET2mutant status is used in molecular diagnostics and contributes to
Therapeutic implications are context-dependent. Hypomethylating agents (e.g., azacitidine, decitabine) are standard for MDS and CMML, and