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The inclusion of familial myeloid malignancies as a separate disease entity in the revised WHO classification has renewed efforts to improve the recognition and management of this group of at risk individuals. Here we report a cohort of 86 acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) families with 49 harboring germline variants in 16 previously defined loci (57%). Whole exome sequencing in a further 37 uncharacterized families (43%) allowed us to rationalize 65 new candidate loci, including genes mutated in rare hematological syndromes ( ADA ,  GP6, IL17RA, PRF1  and  SEC23B ), reported in prior MDS/AML or inherited bone marrow failure series ( DNAH9 ,  NAPRT1  and  SH2B3 ) or variants at novel loci ( DHX34 ) that appear specific to inherited forms of myeloid malignancies. Altogether, our series of MDS/AML families offer novel insights into the etiology of myeloid malignancies and provide a framework to prioritize variants for inclusion into routine diagnostics and patient management.

The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants