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December 8, 2025BloodOpen Access

Beyond clonal hematopoiesis of indeterminate potential: Understanding how the trisomy 21 context promotes TET2 mutations

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Authors

NPNeetha Paul-EduthanMDMarco De DominiciKSKelly D. Sullivan

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Overview

Research reveals that Down syndrome influences TET2 mutations and clonal hematopoiesis, suggesting altered hematopoietic pathways.

Key Points

  • To investigate how the Down syndrome microenvironment promotes TET2 mutations and clonal hematopoiesis.
  • Characterized the mutation landscape of blood samples from individuals with Down syndrome and matched controls using DuplexSeq.
  • Utilized bioinformatics analyses to identify differentially mutated genes associated with clonal expansions.
  • Conducted in vitro and in vivo experiments in mouse models to study TET2 mutations in the context of Down syndrome.
  • Identified TET2 mutations as prevalent in Down syndrome samples but not in controls.
  • Found no significant differences in DNMT3A mutations between groups.
  • Observed upregulation of heme metabolism pathways and downregulation of DNA repair pathways in individuals with notable TET2 mutations.

Cite This Study

Paul-Eduthan et al. (2025) studied this question.

synapsesocial.com/papers/69362f604fa91c937236dd52https://doi.org/10.1182/blood-2025-1397
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Single-cell multiomic profiling of gene mutation, chromatin accessibility, and gene expression in TET2-mutant clonal hematopoiesis2025
  2. 2Chromodomain helicase DNA binding protein CHD2 interacts with TET2 and regulates lineage defining transcription in hematopoietic stem and progenitor cells2025
  3. 3TET2 Deficiency Increases the Competitive Advantage of Hematopoietic Stem Cells through Upregulation of Thrombopoietin Receptor Signaling2024
  4. 4Cell of origin epigenetic priming determines susceptibility to Tet2 mutation2024 · 7 citations
  5. 5Human TET2-mutant clonal hematopoiesis expansion is driven by distinct inflammatory signaling responses in stem cells versus myeloid progeny.2025 · 8 citations