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Myelodysplastic syndrome (MDS) and acute leukemia (AL) are clinically diverse and genetically heterogeneous groups of hematological malignancies. Hereditary forms of MDS/AL were considered rare, but have been increasingly recognized in recent years. 1–3 Pathogenic variants in a single gene can predispose carriers to an increased lifetime risk of primary MDS and/or AL. Hereditary MDS/AL can occur in the context of familial MDS/AL that have MDS/AL as the principal clinical feature, or arise from inherited bone marrow failure syndromes (IBMFS), such as Fanconi anemia (FA), dyskeratosis congenita/telomerase biology disorders (TBD), Diamond–Blackfan anemia and severe congenital neutropenia. 1, 4 Within the past decade, nearly a dozen adult-onset familial MDS/AL syndromes have been defined. These include thrombocytopenia with associated myeloid malignancies caused by germ line mutations in …