Familial platelet disorder with predisposition to myeloid malignancy (FPDMM) is normally associated with germline RUNX1 variants and characterized by life-long moderate thrombocytopenia and platelet function defects with heterogeneity both in age and presentation and significant risk of MDS/AML transformation, estimated at 20–60%8. The gene discussed is RUNX1; the disease is hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1.