JAK2V617F:: prevalence in a large Chinese hospital population
JAK2V617F:: prevalence in a large Chinese hospital population
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DOI：
10.1182/blood-2006-03-009472
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发表时间：
2007-01-01
期刊：
影响因子：
20.3
通讯作者：
Zhao, Zhizhuang Joe
中科院分区：
文献类型：
--
作者：
Xu, Xuesong;Zhang, Qi;Zhao, Zhizhuang Joe
最近，JAK2（V617 F）突变被发现在骨髓增生性疾病（MPD），包括大多数真性红细胞增多症（PV）患者。突变体JAK2具有增加的激酶活性，并且在小鼠模型中显示出致病性。在此，我们分析了从临床实验室随机收集的血液样本。令人惊讶的是，在总共3935个样本中，多达37个样本被发现JAK2突变呈阳性。然而，这些样本中只有一个血液检查结果表明可能的PV，但几个有非血液学疾病。平均而言，具有突变的样本具有正常的红细胞计数，但显著较高的白色血细胞和血小板计数，尽管大多数在正常范围内。数据表明JAK2V617F突变显然比MPD更常见。它的发生可能是全血细胞异常和其他疾病的前奏，但它本身不能诊断MPD。(c)2007年美国血液学会
Recently, the JAK2(V617F) mutation was found in patients with myeloproliferative disorders (MPDs), including most with polycythemia vera (PV). The mutant JAK2 has increased kinase activity, and it was shown to be pathogenic in mouse models. Herein, we analyzed blood samples randomly collected from a clinical laboratory. Surprisingly, as many as 37 samples from a total of 3935 were found positive for the JAK2 mutation. However, only one of these samples had blood test results indicative for probable PV, but several had nonhematologic diseases. On average, samples with the mutation had normal red cell counts but significantly higher white blood cell and platelet counts, although most were within the normal range. The data suggest that the JAK2V617F mutation is apparently much more common than MPDs. Its occurrence may be a prelude to full blood cell abnormalities and other diseases, but it cannot by itself diagnose MPDs. (c) 2007 by The American Society of Hematology