[DDX41-mutated myeloid neoplasms].

Abstract excerpt

Germline variants of DDX41 are among the most common mutations conferring hereditary predisposition to adult MDS/AML, occurring particularly frequently in MDS with increased blasts and in AML secondary to MDS. Their prevalence across disease subtypes is 3% to 9%, with approximately 60% being germline nonsense or frameshift variants that typically acquire a somatic missense second hit. The variant frequency is 2...

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