TET2 (Ten-Eleven Translocation 2) is a gene that encodes an enzyme involved in the process of DNA demethylation, which is crucial for regulating gene expression and maintaining genomic stability.
TET2 is a critical epigenetic regulator whose dysregulation—mainly through mutations—plays a significant role in the development and progression of various cancers, particularly in hematologic malignancies. Its impact on DNA methylation and subsequent gene expression changes makes it a key player in oncogenesis and a potential target for epigenetic therapies. The prognostic implications of TET2 mutations are context-dependent, contributing valuable information regarding disease progression, patient outcomes, and treatment response.
Loss-of-function mutations or reduced activity of TET2 can lead to aberrant DNA methylation patterns, which may result in inappropriate gene silencing (including of tumor suppressor genes) or activation of oncogenes. This disruption in the normal epigenetic landscape contributes to the development and progression of various cancers, particularly hematological malignancies such as myelodysplastic syndromes (MDS), chronic myelomonocytic leukemia (CMML), and acute myeloid leukemia (AML).
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