412例骨髓增殖性肿瘤的JAK2V617F突变检测及其临床意义  

Detection and clinical significance of JAK2 mutation in 412 patients with chronic myeloproliferative neoplasms

作　　者：晁红颖[1] 范峥[1] 张日[1] 沈益民[1] 陈婉[1] 费海荣[1] 朱子玲[1] 冯宇峰[1] 陈子兴[1] 薛永权[1] 

机构地区：[1]苏州大学附属第一人民医院江苏省血液病研究所卫生部血栓与止血重点实验室,215006

出　　处：《中华肿瘤杂志》2009年第7期510-514,共5页Chinese Journal of Oncology

基　　金：江苏省卫生厅“科教兴卫工程”临床医学中心开放课题基金（基金编号：WKF07006）

摘　　要：目的研究JAK2V617F突变在慢性骨髓增殖性肿瘤（MPN）中的发生率及其与临床表现和并发症间的相关性。方法采用等位基因特异性PCR方法，检测MPN中JAK2V617F的发生情况。结果412例MPN患者中，JAK2V617F突变277例。JAK2V617F在原发性血小板增多症（ET）、特发性骨髓纤维化（IMF）和不能分类的骨髓增殖性疾病（MPD—U）中发生率分别为55．9％、66．7％和52．4％（P〉0．05），均低于真性红细胞增多症（PV，95．6％），差异有统计学意义（P〈0．05）。JAK2突变型患者的平均年龄高于野生型患者（P〈0．01）；JAK2突变型患者的白细胞计数和血红蛋白水平均高于野生型患者（P〈0．05）；JAK2突变型患者中血管事件的发生率高于野生型患者（P〈0．05）；JAK2突变型的MPD—U患者较野生型患者更易进展为典型MPN（P〈0．05）；在301例行染色体检查的患者中，未发现核型异常与JAK2V617F表达之间存在相关性。结论检测MPD—U患者中JAK2V617F的突变情况对疾病发展有提示作用；JAK2V617F突变与MPN患者年龄、外周血细胞计数及血管事件并发症相关。Objective To investigate the frequency of JAK2V617F mutation in Chinese patients with chronic myeloproliferative neoplasms （MPN） and to study the relationship between JAK2V617F mutation and clinical characteristics. Methods JAK2V617F mutation was screened by allele-specific polymerase chain reaction （AS-PCR）. Results JAK2V617F mutation was detected in 277 of the 412 patients with MPN. The frequency of JAK2V617F mutation was similar among essential thrombocythemia （ ET）, idiopathic myelofibrosis （ IMF ） and chronic myeloproliferative disorders-unclassified （ MPD-U ） （P 〉 0.05 ）, but it was significantly lower than that in polycythemia vera （PV） （P 〈 0.05 ）. The presence of JAK2V617F was found to be significantly correlative with advanced age at diagnosis （P 〈0.01 ） and with higher hemoglobin levels and higher leukocyte counts （ P 〈 0. 05 ）. Significant difference was found in complication of vascular events between JAK2V617 positive and negative patients （P 〈 0.05 ）. JAK2V617F positive MPD-U patients were more prone to progress into typical MPN compared with JAK2V617F negative MPD-U patients. The association between abnormal karyotype and JAK2V617F was not found in cytogenetical analysis of 301 patients. Conclusion The presence of JAK2V617F in MPD-U is associated with the disease development. There is a correlation between JAK2V617F mutation in MPN and advanced age, higher leukocyte counts, hemoglobin level and vascular events.

关 键 词：骨髓增殖性肿瘤 JAK2V617F 等位基因特异性PCR 

分 类 号：R686[医药卫生—骨科学]