Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status:: a prospective study
Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status:: a prospective study
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DOI：
10.1016/s0140-6736(05)67785-9
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发表时间：
2005-12-03
期刊：
影响因子：
168.9
通讯作者：
Green, AR
中科院分区：
文献类型：
--
作者：
Campbell, PJ;Scott, LM;Green, AR
背景JAK 2的获得性V617 F突变发生在大多数真性红细胞增多症患者中，但仅见于一半的原发性血小板增多症和特发性骨髓纤维化患者。我们的目的是评估是否有突变的患者是生物学上不同的那些没有，为什么相同的突变与不同的疾病phenotype.Methods两个敏感的PCR为基础的方法被用来评估JAK 2突变状态的806例原发性血小板增多症，包括776从医学研究理事会的原发性血小板增多症试验（MRC PT-1）和其他两个前瞻性研究。结果突变阳性患者有多种类似真性红细胞增多症的特征，血红蛋白显著增加（平均增加9.6 g/L，95%CI 7.6-11.6 g/L; P < 0.01），而V617 F阳性和V617 F阴性患者的实验室和临床特征、对治疗的反应和临床事件进行了比较。
Background An acquired V617F mutation in JAK2 occurs in most patients with polycythaemia Vera, but is seen in only half those with essential thrombocythaemia and idiopathic myelofibrosis. We aimed to assess whether patients with the mutation are biologically distinct from those without, and why the same mutation is associated with different disease phenotypes.Methods Two sensitive PCR-based methods were used to assess the JAK2 mutation status of 806 patients with essential thrombocythaemia, including 776 from the Medical Research Council's Primary Thrombocythaemia trial (MRC PT-1) and two other prospective studies. Laboratory and clinical features, response to treatment, and clinical events were compared for V617F-positive and V617F-negative patients with essential thrombocythaemia.Findings Mutation-positive patients had Multiple features resembling polycythaemia Vera, with significantly increased haemoglobin (mean increase 9.6 g/L, 95% CI 7.6-11.6 g/L; p