TET2 mutations
Current understanding
Loss-of-function TET2 mutations are common epigenetic lesions in MPN, often co-occurring with JAK2 V617F and contributing to clonal hematopoiesis.
Evidence log
- 2026-07-01 — Genomic profiling for decision-making in post-polycythemia vera and post-essential thrombocythemia myelofibrosis.: In the MYSEC secondary-MF genomic profiling cohort, TET2 mutations were profiled but did not enter the refined MYSEC-mPM/MYSEC-kmPM prognostic model, whose incremental OS discrimination came from ASXL1 and the UTS (U2AF1/TP53/SRSF2) signature rather than TET2 status. (novelty: 3)
- 2026-06-16 — Allogeneic Transplantation in the Rare Disease Myelodysplastic Syndrome/Myeloproliferative Neoplasm with Neutrophilia: Age and Disease Burden Determine Outcome.: In a 85-patient allo-HCT cohort for MDS/MPN with neutrophilia, TET2 mutations were associated with worse post-transplant outcomes, extending TET2’s prognostic footprint into the transplant setting for this rare overlap syndrome. (novelty: 3)
- 2026-07-18 — Acute Myeloid Leukemia Subtype-Specific Prognostic Value of NGS in the Setting of Intensive Chemotherapy.: In the Mayo intensive-chemo AML cohort, routine NGS mutation risk (including TET2 and other myeloid mutations) was prognostically informative mainly in primary non-CBF AML rather than in secondary AML arising from MPN/MDS, tempering the prognostic weight of TET2 mutations in the transformation setting. (novelty: 3)
- 2026-08-12 — Additional myelodysplasia-related gene mutations alter clinical presentation and worsen prognosis in patients with/co-mutated myeloid neoplasms.: Retrospective cohort of TET2-co-mutated myeloid neoplasms shows that additional myelodysplasia-related gene mutations (most often ASXL1) shift the phenotype away from monocytosis toward anemia, roughly halve overall survival, and increase AML transformation from CMML — indicating that TET2’s clinical trajectory is heavily modulated by co-occurring MRG lesions. (novelty: 3)
- 2026-07-23 — DNMT3A and TET2 Mutations are Associated With Both Venous Thrombosis and Major Bleeding in Patients With Polycythemia Vera and Essential Thrombocythemia.: Observational MPN study links TET2 mutations to both venous thrombosis and major bleeding specifically in PV and ET (not MF), positioning TET2 loss as a bidirectional hemostatic-risk modifier in chronic-phase MPN. (novelty: 3)
- 2026-07-31 — Unmasking Additional Mutations: A Single Institution Study in Myeloproliferative Neoplasms.: Comprehensive 75-gene NGS at MPN evaluation frequently detected TET2 alongside driver mutations, consistent with TET2’s role as a common co-mutation captured only by broad panel testing at baseline. (novelty: 3)
- 2026-06-05 — Eltrombopag as a Novel Therapeutic Approach for Low-risk MDS and CMML With TET2 Mutations: Early-phase clinical evaluation proposes that the TPO-R agonist eltrombopag selectively suppresses TET2-mutant clonal growth in low-risk MDS/CMML, introducing a candidate mutation-selective vulnerability of TET2-mutant clones to TPO-receptor agonism. (novelty: 4)
- 2026-05-20 — A Phase 2 Study Evaluating Olutasidenib in Combination With Hypomethylating Agents in Patients With IDH1-mutated Higher-risk Myelodysplastic Syndromes, Chronic Myelomonocytic Leukemia, or Advanced Myeloproliferative Neoplasm: cross-connection with mutant-idh1-2hg-mpn: Mutant IDH1-derived 2-HG inhibits TET2 enzymatic activity, producing a TET2-loss-like hypermethylation phenotype and linking IDH1-mutant biology to the TET2 mutation axis in myeloid disease. (novelty: 3)
- 2026-04-27 — Clinical Impact of Next-Generation Sequencing-Detected Mutations on Thrombotic Events in Myeloproliferative Neoplasms.: JAK2/TET2 co-mutation emerged as the strongest independent predictor of venous thromboembolism in a 78-gene NGS profiling study of 91 MPN patients, implicating TET2 loss as a thrombosis-modifying co-driver beyond its role in clonal expansion. (novelty: 3)