TET2 mutation analysis is performed by next-generation sequencing of all coding exons of the TET2 gene.
Tet Methylcytosine Dioxygenase 2 (TET2) functions in DNA methylation as a part of epigenetic regulation of gene expression. Mutations are detected in myeloid cancers including 19% of myelodysplastic syndrome (MDS) cases, 12% of myeloproliferative neoplasms (MPN) cases, 16% of acute myeloid leukemia (AML) cases, and 44% of chronic myelomonocytic leukemia (CMML) cases, and are associated with poor overall survival in intermediate-risk AML. Mutations are also detected in 38% of peripheral T-cell lymphoma and 47% of angioimmunoblastic T-cell lymphoma. In these lymphomas, TET2 mutations are associated with aggressive disease and poor outcome. Testing for TET2 mutations will provide information for patient risk stratification, prognosis, and overall therapy guidance.
- Peripheral blood: 5 mL in EDTA tube.
- Bone marrow: 2 mL in EDTA tube.
- FFPE tissue: Paraffin block is preferred. Alternatively, send 1 H&E slide plus 5-10 unstained slides cut at 5 or more microns. Please use positively-charged slides and 10% NBF fixative. Do not use zinc fixatives.
Use cold pack for transport, making sure cold pack is not in direct contact with specimen.
- Feng Y, Li X, Cassady K, Zou Z, Zhang X. TET2 Function in Hematopoietic Malignancies, Immune Regulation, and DNA Repair. Front Oncol. 2019;9:210. Published 2019 Apr 2. doi:10.3389/fonc.2019.00210
- McClure RF, Ewalt MD, Crow J, et al. Clinical Significance of DNA Variants in Chronic Myeloid Neoplasms: A Report of the Association for Molecular Pathology. J Mol Diagn. 2018;20(6):717‐737. doi:10.1016/j.jmoldx.2018.07.002
- Muto T, Sashida G, Oshima M, et al. Concurrent loss of Ezh2 and Tet2 cooperates in the pathogenesis of myelodysplastic disorders. J Exp Med. 2013;210(12):2627‐2639. doi:10.1084/jem.20131144