Familial platelet disorder with associated myeloid malignancy (FPD/MM) is an inherited disease caused by harmful genetic mutations in the RUNX1 gene. FPD/MM patients bruise and bleed easily, due to both a lack of platelets (thrombocytopenia) and platelets that do not work correctly. Nearly half will develop blood cancer over their lifetime. Genetic testing is the cornerstone of diagnosis. Patients with blood cancers who have a RUNX1 mutation have an aggressive disease that does not respond well to traditional chemotherapy, and many will be treated with a bone marrow transplant.
University of Washington, Seattle
Seattle, WA 98195
United States