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Genomic landscape of patients with germline RUNX1 variants and familial platelet disorder with myeloid malignancy

29 Nov 2023

Abstract excerpt

ABSTRACT: Familial platelet disorder with associated myeloid malignancies (FPDMM) is caused by germline RUNX1 mutations and characterized by thrombocytopenia and increased risk of hematologic malignancies. We recently launched a longitudinal natural history study for patients with FPDMM. Among 27 families with research genomic data by the end of 2021, 26 different germline RUNX1 variants were detected. Besides...

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PMID: 38019014
DOI: 10.1182/bloodadvances.2023011165

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