ETV6-related thrombocytopenia and leukemia predisposition

• Published in: Blood Vol. 134; no. 8; pp. 663 - 667
• Main Authors: Di Paola, Jorge, Porter, Christopher C.
• Format: Journal Article
• Language: English
• Published: United States Elsevier Inc 22-08-2019; American Society of Hematology
• Subjects: Bone Marrow - metabolism; Bone Marrow - pathology; Disease Management; ETS Translocation Variant 6 Protein; Genetic Predisposition to Disease; Germ-Line Mutation; Hemorrhage - etiology; Hemorrhage - prevention & control; Humans; Leukemia - complications; Leukemia - genetics; Leukemia - pathology; Leukemia - therapy; Proto-Oncogene Proteins c-ets - analysis; Proto-Oncogene Proteins c-ets - genetics; Repressor Proteins - analysis; Repressor Proteins - genetics; Spotlight; Thrombocytopenia - complications; Thrombocytopenia - genetics; Thrombocytopenia - pathology; Thrombocytopenia - therapy
• ISSN: 0006-4971; 1528-0020
• DOI: 10.1182/blood.2019852418

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.
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