Paul P Liu, Lea Cunningham, Matthew Douglas Merguerian, Katherine R Calvo, Joie Davis, Natalie T Deuitch, Alina E Dulau-Florea, Nisha Patel, Kai Yu, Keith Sacco, Sumona Bhattacharya, Monica Passi, Neval Ozkaya, Seila Vanessa De Leon, Shawn Nathan Chong, Kathleen Marie Craft, Jamie L Diemer, Erica Bresciani, Kevin J O'Brien, Elizabeth J Andrews, Nguyen Park, Londa Hathaway, Edward W Cowen, Theo Heller, Kerry Ryan, Amisha Barochia, Khanh Nghiem, Julie E Niemela, Sergio D Rosenzweig, David J Young, Pamela Frischmeyer-Guerrerio, Raul C Braylan
Deleterious germline RUNX1 variants cause the autosomal dominant disease familial platelet disorder with associated myeloid malignancy (FPDMM), characterized by thrombocytopenia, platelet functional defects and predisposition to hematologic malignancies (HMs). We launched a FPDMM natural history study and, from January 2019-December 2021, enrolled 214 participants, including 111 patients with 39 different RUNX1 variants from 45 unrelated families. Of those with available data, 91% (70/77) had thrombocytopenia, 100% (18/18) had abnormal platelet aggregometry, 46% (16/35) had platelets with decreased dense granules, and 51% (28/55) had abnormal bleeding scores...
September 22, 2023: Blood