ETV6-Related Thrombocytopenia and Leukemia Predisposition

Jorge Di Paola and Christopher C. Porter


Germline 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 approximately 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.

  • Submitted January 24, 2019.
  • Revision received June 27, 2019.
  • Accepted June 19, 2019.