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December 8, 2025BloodOpen Access

Unsupervised clustering of DDX41 mutants informs on the somatic landscape of single germline hits

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Authors

CBCarlos Bravo‐PérezZBZachary BradyKLKartik Lakhotiya

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Overview

Unsupervised clustering reveals molecular classification patterns in hematologic diseases with DDX41 mutations, indicating potential implications for leukemia and bone marrow failure.

Key Points

  • To elucidate the molecular and clinical context of DDX41 configurations with a focus on single germline mutations.
  • Screened 11,500 clinical cases with NGS
  • Categorized DDX41 mutations into single somatic, single germline, and biallelic hits
  • Applied unsupervised clustering to define molecular DDX41 associated clusters
  • Identified 154 DDX41 mutants: 61% single germline, 14% single somatic
  • MC1 cluster had 71% single germline cases and high prevalence of AML
  • Common mutations included DNMT3A and TET2, suggesting a link to myeloid neoplasia

Cite This Study

Bravo‐Pérez et al. (2025) studied this question.

synapsesocial.com/papers/69362f7d4fa91c937236e447https://doi.org/10.1182/blood-2025-1443
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Also Consider

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

  1. 1Exploring the spectrum of non-malignant complications in germline DDX41-associated hematologic disorders2025
  2. 2Leveraging paired germline and somatic analysis to improve the classification of <i>DDX41</i> variants2026 · 1 citations
  3. 3Peripheral Blood and Bone Marrow Findings in Treatment-Naive Patients With Cytopenia(s)/Myeloid Neoplasms Harboring Both a Germline and a Somatic DDX41 Mutation2024 · 4 citations
  4. 4Decoding DDX41: Clinical impact of germline and somatic mutations in 77 high-risk myeloid neoplasm patients2025 · 1 citations
  5. 5Clinical and Molecular Spectrum of DDX41 Variants in Korean Patients with Hematologic Malignancies2025