骨髓纤维化JAK2V617F突变的临床意义  

Clinical Significance of Myelofibrosis in JAK2V617F Mutation

作　　者：徐祖琼[1] 孙雪梅[1] 陈敏[1] 刘丽[1] 

机构地区：[1]南京中医药大学附属江苏省中医院血液科,南京210029

出　　处：《临床误诊误治》2012年第11期50-52,共3页Clinical Misdiagnosis & Mistherapy

基　　金：江苏省科技厅社会发展项目(BS2003603);江苏省医学重点人才基金资助项目(RC2007002);南京市医学科技重点项目(ZKX06013)

摘　　要：目的分析骨髓纤维化患者JAK2V617F突变与外周血常规的关系。方法利用Taqman-MGB探针联合实时聚合酶链反应方法检测30例原发性骨髓纤维化的JAK2V617F突变情况,并比较JAK2V617F突变与无突变患者的外周血常规改变。结果 30例中12例JAK2V617F突变,突变率为40%。JAK2V617F突变12例外周血白细胞平均(13.07±3.71)×109/L显著高于JAK2V617F无突变18例外周血白细胞平均(4.37±2.59)×109/L,两组比较差异有统计学意义(P<0.01),但两组血红蛋白及血小板数比较差异无统计学意义(P>0.05)。结论骨髓纤维化患者中JAK2V617F突变者外周血白细胞数高于JAK2V617F无突变者,这对治疗有一定的指导意义。Objective To analyze the relationship between genetic mutation of JAK2V617F in patients with constitutional myelofibrosis and peripheral blood routine examination. Methods The mutation of JAK2V617F in 30 patients with myelofibrosis were detected by real time PCR combined with Taqman-MGB probes, and the changes of peripheral blood routine in mutation were compared with that of non mutation. Results 12 in 30 patients （40%） with the mutation of JAK2V617F were detected, the average peripheral blood leucocyte in the 12 patients was （ 13.07 ± 3.71 ） ×10^9/L which was significantly higher than those of 18 patients with non mutation of JAK2V617F （4.37 ±2.59）×10^9/L （P 〈0.01 ）, but the differences of haemoglobin and platelet in two groups was of no statistical significance （P 〉 0.05）. Conclusion The number of peripheral blood leucocyte of mutation of JAK2V617F in patients with myelofibrosis is higher than those of non mutation, which may provide guidance for myelofibrosis treatment.

关 键 词：骨髓纤维化 血细胞计数 JAK2基因 

分 类 号：R551.3[医药卫生—血液循环系统疾病]