An unselected cohort of adult MDS/AML patients is screened to discover mutant DDX41-driven MDS/AML. Personal and family history of hematological disorders is recorded and reviewed for evidence of inherited cause, yet in the context of germline DDX41 mutations, this approach might prove inconclusive (indicated by the diagonally-striped background). Diagnostic assessment for germline and somatic DDX41 mutations could provide further indications, primarily when the germline DDX41 mutation is known to be causal or is supplemented by a somatic DDX41 mutation. Based on the results from Sébert et al, this approach would diagnose 2.4% of adult MDS/AML cases as being driven by causal germline DDX41 mutations.