ETV6-related Thrombocytopenia and Leukemia Predisposition

Overview

Journal Blood

Publisher Elsevier

Specialty Hematology

Date 2019 Jun 29

PMID 31248877

Citations 27

Authors

Jorge Di Paola

Christopher C Porter

Affiliations

Soon will be listed here.

Abstract

Germ line mutations in 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.

Citing Articles

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