The JAK2 V617F mutation in de novo acute myelogenous leukemias
The JAK2 V617F mutation in de novo acute myelogenous leukemias
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DOI：
10.1038/sj.onc.1209163
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发表时间：
2006-03-02
期刊：
影响因子：
8
通讯作者：
Lee, SH
中科院分区：
文献类型：
--
作者：
Lee, JW;Kim, YG;Lee, SH
最近报道了JAK2基因的错义体细胞突变（JAK2 V617F）在慢性骨髓增殖性疾病中，包括真性红细胞增多症、原发性血小板增多症和骨髓纤维化伴髓系化生，强烈提示其在髓系疾病发病机制中的作用。由于JAK2信号的激活也发生在其他恶性肿瘤中，我们通过聚合酶链反应-单链构象多态性分析分析了558例常见人类癌症组织，包括结肠癌、乳腺癌和肺癌，以及143例急性成年白血病。我们在113例急性髓性白血病（AMLs）中发现了3个JAK2突变（2.7%），但在其他癌症中没有。突变包括两个V617F突变和一个K607N突变。携带JAK2 V617F突变的AML患者均无既往血液病史。这是关于AML中JAK2基因突变的首次报道，数据表明JAK2基因突变不仅可能促进慢性髓系疾病的发展，还可能导致一些AML。
A missense somatic mutation in JAK2 gene (JAK2 V617F) has recently been reported in chronic myeloproliferative disorders, including polycythemia vera, essential thrombocythemia and myelofibrosis with myeloid metaplasia, strongly suggesting its role in the pathogenesis of myeloid disorders. As activation of JAK2 signaling is occurred in other malignancies as well, we have analysed 558 tissues from common human cancers, including colon, breast and lung carcinomas, and 143 acute adulthood leukemias by polymerase chain reaction - single strand conformation polymorphism analysis. We found three JAK2 mutations in the 113 acute myelogenous leukemias (AMLs)(2.7%), but none in other cancers. The mutations consisted of two V617F mutations and one K607N mutation. None of the AML patients with the JAK2 V617F mutation had a history of previous hematologic disorders. This is the first report on the JAK2 gene mutation in AML, and the data indicated that the JAK2 gene mutation may not only contribute to the development of chronic myeloid disorders, but also to some AMLs.