- Gene affected:
- TET2: Tet methylcytosine dioxygenase 2 gene
- Clinical significance
- Mutations affecting TET2 are frequent in haematological malignancies, there is unclear relevance to clinical outcome, although when present as a sole lesion in MDS outcome may be favourable. The prognostic significance of TET2 is highly influenced by co-occurring mutations.
- Note TET2 is a frequently mutated gene in Age Related Clonal Change (ARCH) and in Clonal Haematopoieisis of Indeterminate Prognosis (CHIP). When detected as part of haematological neoplasia TET2 may persist following successful treatment. Interpretation therefore depends significantly on clinical context (see separate section)
Function of gene
TET2 is involved in the epigenetic regulation of DNA methylation. In haematology, mutations of TET2 particularly involve melodysplasia. It is also recognised that the WT1 (Wilms tumor 1) protein is involved in the regulation of TET2 binding to DNA. WT1 defects may therefore alter DNA methylation through a TET2-dependent route.
NGS panel gene coverage
Mutations are spread throughout the gene. This NGS panel covers the full coding sequence of the gene.Mutations are spread throughout the gene. This NGS panel covers the full coding sequence of TET2.
- Mutations of IDH1 and IDH2 genes are considered mutually exclusive with TET2 mutations
- Associations: mutation of TET2 is frequently associated with other common myeloid mutations and outcome is significantly influenced by their presence (see separate text).
- GeneWiki link: