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December 8, 2025BloodOpen Access

Bone marrow alterations and clonal hematopoiesis in germline ETV6 mutation carriers without hematologic malignancy

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Authors

CGCarmelo GurnariRARaquel De Paz AriasSSSílvia Saumell

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Overview

Study reports high clonal hematopoiesis and bleeding tendency in ETV6 mutation carriers, suggesting need for genetic testing.

Key Points

  • To investigate clonal hematopoiesis and bone marrow dysplasia in germline ETV6 mutation carriers without hematologic malignancy.
  • Enrolled 25 ETV6 carriers and 18 controls from 12 families across 6 centers.
  • Conducted baseline bone marrow aspiration and annual evaluations for carriers without hematologic malignancy.
  • Assessed clonal hematopoiesis via targeted NGS of recurrent myeloid genes.
  • Carriers without HM had lower platelet counts compared to controls (p<0.001).
  • Majority of carriers without HM showed dysplasia in hematopoietic lineages (82%).
  • 36% of carriers had acquired myeloid mutations including EZH2 and KRAS.

Cite This Study

Gurnari et al. (2025) studied this question.

synapsesocial.com/papers/693624d74fa91c937236d148https://doi.org/10.1182/blood-2025-4997
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Also Consider

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

  1. 1Intermediate and high-risk clonal hematopoiesis in germline predisposition families2025
  2. 2ANKRD26-related thrombocytopenia: Hematologic malignancy characteristics, clinical outcomes, and precursor states2025
  3. 3Rare germline ETV6 variant associated with thrombocytopenia and acute leukemia2025 · 1 citations
  4. 4Screening for clonal hematopoiesis in patients with β-hemoglobinopathies who are candidates to transplant approaches2025 · 1 citations
  5. 5Performance and clinical utility of germline genetic testing criteria for predisposition to myeloid neoplasms in adults2025