Hereditary platelet disorders associated with germ line variants in RUNX1, ETV6, and ANKRD26.

ABSTRACT: Hereditary platelet disorders (HPDs) are a group of blood disorders with variable severity and clinical impact. Although phenotypically there is much overlap, known genetic causes are many, prompting the curation of multigene panels for clinical use, which are being deployed in increasingly large-scale populations to uncover missing heritability more efficiently. For some of these disorders, in particular RUNX1, ETV6, and ANKRD26, pathogenic germ line variants in these genes also come with a risk of developing hematological malignancy (HM). Although they may initially present as similarly mild-moderate thrombocytopenia, each of these 3 disorders have distinct penetrance of HM and a different range of somatic alterations associated with malignancy development. As our ability to diagnose HPD

SUBMITTER: Homan CC 

PROVIDER: S-EPMC10651873 | biostudies-literature | 2023 Mar

REPOSITORIES: biostudies-literature