Department of Pediatrics, University of Colorado School of Medicine, Aurora, CO; and.
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA.
Blood. 2019 Aug 22;134(8):663-667. doi: 10.1182/blood.2019852418. Epub 2019 Jun 27.
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.
在 中发生的种系突变负责家族性血小板减少症和白血病易感性综合征。血小板减少症几乎完全外显，通常为轻度。约 30%的携带者会发生白血病，且最常见的是 B 细胞急性淋巴细胞白血病。ETV6 功能障碍促进血小板减少症和白血病的机制尚不清楚。针对 ETV6 相关血小板减少症和白血病易感性的个体护理包括遗传咨询、治疗或预防过度出血以及监测血液恶性肿瘤的发展。
