Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1
Definition
This is an autosomal dominant disorder caused by mutations in the RUNX1 gene and is characterized by mild to moderate thrombocytopenia, platelet functional and/or ultrastructural defects and a predisposition to hematologic malignancies, most often AML and MDS, and less frequently T-ALL.
Also known as Familial Platelet Disorder with Associated Myeloid Malignancy, familial platelet syndrome with predisposition to acute myelogenous leukaemia, familial platelet syndrome with predisposition to acute myelogenous leukemia, FPD/AML syndrome, FPS/AML syndrome, hereditary thrombocytopenia and hematological cancer predisposition syndrome associated with RUNX1 — per MONDO