Clinical Edge

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Genetic analysis highlights value of germline variants in MDS, AML

Key clinical point: Germline DDX41 mutations were found to be relatively prevalent but showed favorable outcomes in a cohort of patients with myelodysplastic syndromes or acute myeloid leukemia.

Major finding: Among 43 unrelated patients, a total of 28 distinct germline DDX41 variants were detected, of which 21 were considered causal.

Study details: A genetic analysis of 1,385 patients with myelodysplastic syndromes or acute myeloid leukemia.

Disclosures: No funding sources were reported, and the authors reported having no conflicts of interest.

Citation:

S├ębert M et al. Blood. 2019 Sep 4. doi: 10.1182/blood.2019000909.