JAK2V617F点突变在BCR-ABL阴性骨髓增殖性疾病中的意义  

Significance of the JAK2V617 mutation in BCR-ABL-negative myeloproliferative disorders

作　　者：卢聪[1] 陈燕[1] 朱君[1] 夏凌辉[1] 方峻[1] 

机构地区：[1]华中科技大学同济医学院附属协和医院血液科,武汉430022

出　　处：《临床内科杂志》2009年第9期596-598,共3页Journal of Clinical Internal Medicine

摘　　要：目的研究JAK2V617F点突变在诊断BCR—ABL融合基因阴性的骨髓增殖性疾病（MPD）患者中的意义。方法选择51例BCR—ABL阴性MPD患者，采用等位基因特异PCR法检测各组患者JAK2V617F的突变情况。结果51例BCR—ABL融合基因阴性的MPD患者中，34例JAK2V617F突变阳性，其中原发性血小板增多症（ET）18例（69．23％），真性红细胞增多症（PV）16例（66．67％），特发性骨髓纤维化（IMF）1例为阴性；PV与ET患者相比更容易发生肝脾肿大、脑梗死、静脉血栓形成、高尿酸血症等并发症（P〈0．05）。ET患者中，JAK2V617F突变阳性组白细胞计数较阴性组高（P〈0．05）。ET患者中，JAK2V617F突变阳性组白细胞计数较阴性组高（P〈0．05），ET和PV患者中JAK2V617F突变阳性组都比阴性组更容易发生上述并发症等（P均〈0．05）。结论JAK2V617F点突变在BCR—ABL融合基因阴性MPD中有较高的发生率，具有明确的诊断学意义；ET及PV患者中此突变阳性者更易发生血栓形成等并发症。Objective To explore the significance of JAK2V617F mutation in BCR-ABL-negative myeloproliferative disorders （MPD）. Methods 51 patients with BCR-ABL-negative MPD were examined. Allele gene specific PCR was performed to identify the JAK2V617 mutation. Results JAK2V617F muta- tion was detected in 18 primary thrombocythemia （ET）cases （69.23%, 18/26 ）and 16 polycythemia vera （PV） cases （66.67% , 16/24）. Incidence of compilations, such as hepatosplenomegaly, venous thrombosis, cerebral infarction and hyperuricemia, was significantly higher in patients with PV than in patients with ET. JAK2V617-positive patients with ET or PV had higher leukocytes counts and more complications than JAK2V617-negative patients. Conclusion JAK2V617F mutation is frequent in BCR-ABL-negative MPD, which is important for the diagnosis. JAK2V617-positive patients with ET or PV are all liable to develop complications.

关 键 词：骨髓增殖性疾病 JAK2V617F突变 并发症 

分 类 号：R552[医药卫生—血液循环系统疾病]