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April 16, 2026British Journal of Haematology

Genetic characterization of AML defined by differentiation shows a high frequency of DDX41 mutations

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Authors

SHSandra HuberCKChristoph KornauthSHStephan Hütter

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Overview

Characterization study identifies DDX41 mutations in AML defined by differentiation, suggesting better risk assessment.

Key Points

  • This study aims to genetically characterize acute myeloid leukaemia defined by differentiation (AML-diff) and identify DDX41 mutations.
  • Analyzed 2833 AML patients using morphological, cytogenetic, and molecular genetics assessments for 55 genes.
  • Performed whole genome sequencing and whole transcriptome sequencing on cases lacking defined genetic markers.
  • Classified patients according to WHO-HAEM5 guidelines and collected genetic data for analysis.
  • 10% of the AML cohort is classified as AML-diff, with 96% showing genetic aberrations upon detailed analysis.
  • Most frequently mutated genes in AML-diff* are DNMT3A (30%), FLT3 (25%), and DDX41 (24%).
  • 24% of AML-diff* patients have DDX41 mutations, indicating a higher prevalence compared to other AML types with an odds ratio of 7.4.

Cite This Study

Huber et al. (2026) studied this question.

synapsesocial.com/papers/69e07e3b2f7e8953b7cbf3aehttps://doi.org/10.1111/bjh.70484
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Also Consider

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

  1. 1Unsupervised clustering of DDX41 mutants informs on the somatic landscape of single germline hits2025
  2. 2DDX41-related myeloid neoplasms: Insights and treatment landscape in 250 patients managed at a large tertiary centre2025
  3. 3Decoding DDX41: Clinical impact of germline and somatic mutations in 77 high-risk myeloid neoplasm patients2025 · 1 citations
  4. 4Molecular subclusters across the continuum of myelodysplastic neoplasms and acute myeloid leukaemia define distinct clinical entities2025
  5. 5Identification of two novel TP53 mutations in secondary acute myeloid leukemia following multiple myeloma: a case report2026