ETV6-related thrombocytopenia and leukemia predisposition.

ABSTRACT: Germ line mutations in ETV6 are responsible for a familial thrombocytopenia and leukemia predisposition syndrome. Thrombocytopenia is almost completely penetrant and is usually mild. Leukemia is reported in ∼30% of carriers and is most often B-cell acute lymphoblastic leukemia. The mechanisms by which ETV6 dysfunction promotes thrombocytopenia and leukemia remain unclear. Care for individuals with ETV6-related thrombocytopenia and leukemia predisposition includes genetic counseling, treatment or prevention of excessive bleeding and surveillance for the development of hematologic malignancy.

SUBMITTER: Di Paola J 

PROVIDER: S-EPMC6706811 | biostudies-literature | 2019 Aug

REPOSITORIES: biostudies-literature