TET2 Gene Sequence Analysis
Definition
TET2 is an epigenetic regulatory enzyme involved in DNA demethylation and controls hematopoietic stem cell self-renewal and myeloid differentiation. TET2 loss-of-function mutations are quite common in myeloid neoplasms: found in ~50% of CMML, 19-26% of MDS, and ~10-25% of AML; it is also considered the prototypic lesion of clonal hematopoiesis (CHIP), detected in ~5-10% of healthy individuals over 65 years of age. In cytogenetically normal AML, patients carrying a dominant (clonally dominant) TET2 mutation have significantly shorter overall survival (19 months versus 33 months).
Gene/region examined
TET2 - Exon 3, TET2 - Exon 4, TET2 - Exon 5, TET2 - Exon 6, TET2 - Exon 7, TET2 - Exon 8, TET2 - Exon 9, TET2 - Exon 10, TET2 - Exon 11
Method
DNA analysis
Accepted sample types
Bone marrow (EDTA)
Description
Diagnosis.
Inheritance
Somatic, these are acquired inactivating mutations, with no hereditary transmission involved. No known germline/familial TET2 syndrome has been described (in the context of CHIP, age-related somatic TET2 mutations accumulate acquiredly, which is not hereditary).