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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 HuberUniversity Hospital of North NorwayCKChristoph KornauthMunich Leukemia Laboratory (Germany)SHStephan HütterMunich Leukemia Laboratory (Germany)

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Implication

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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