Veselovska Jitka, Pospisilova Dagmar, Pekova Sona, Horvathova Monika, Solna Renata, Cmejlova Jana, Cmejla Radek, Belickova Monika, Mihal Vladimir, Stary Jan, Divoky Vladimir
Department of Biology, Faculty of Medicine, Palacky University, Olomouc, Czech Republic.
Leuk Res. 2008 Mar;32(3):369-77. doi: 10.1016/j.leukres.2007.07.011. Epub 2007 Aug 23.
Essential thrombocythemia (ET), a Philadelphia (Ph) chromosome negative chronic myeloproliferative disorder, is usually a disease of middle age and it is extremely rare in pediatric patients. In this report we studied 12 children diagnosed with ET and one child with thrombocytosis and family history of ET. We failed to detect JAK2 V617F mutation either in peripheral blood leukocytes or in separated platelets and granulocytes. Monoclonal hematopoiesis was noted in only one female patient. Erythroid progenitors of most of the patients displayed hypersensitivity to erythropoietin (Epo) in vitro; Epo-independent erythroid colonies (EECs) were detected in seven patients. Among EECs of three patients we observed rare colonies heterozygous or homozygous for the JAK2 V617F mutation. Our data suggest that childhood ET patients could bear minor JAK2 V617F-positive subclones.
原发性血小板增多症（ET）是一种费城（Ph）染色体阴性的慢性骨髓增殖性疾病，通常发生于中年，在儿科患者中极为罕见。在本报告中，我们研究了12例诊断为ET的儿童以及1例有血小板增多症且有ET家族史的儿童。我们在外周血白细胞、分离的血小板和粒细胞中均未检测到JAK2 V617F突变。仅在1例女性患者中发现了单克隆造血。大多数患者的红系祖细胞在体外对促红细胞生成素（Epo）表现出超敏反应；在7例患者中检测到不依赖Epo的红系集落（EEC）。在3例患者的EEC中，我们观察到罕见的JAK2 V617F突变杂合或纯合集落。我们的数据表明，儿童ET患者可能携带少量JAK2 V617F阳性亚克隆。
