JAK2V617F基因突变与骨髓增殖性肿瘤类型及疾病转化的相关性分析  

Relative analysis on JAK2V617F gene mutation and types of myeloproliferative neoplasms and their transformation

作　　者：高晓冬 张志南 宋燕[2] 韩凤山 邹淑华 

机构地区：[1]哈尔滨市二四二医院肿瘤血液科,黑龙江哈尔滨150066 [2]哈尔滨医科大学附属第二医院血液内科,黑龙江哈尔滨150081

出　　处：《哈尔滨医科大学学报》2015年第3期236-238,共3页Journal of Harbin Medical University

摘　　要：目的研究JAK2V617F基因突变与骨髓增殖性肿瘤疾病类型及疾病转化的关系。方法收集50例真性红细胞增多症(PV)、原发性血小板增多症(ET)、原发性骨髓纤维化(PMF)患者的临床资料进行回顾性分析,对患者进行JAK2V617F基因检测,并分析该基因突变在骨髓增殖性肿瘤的三种亚型中的发生率以及其与疾病转化的关系。结果 JAK2V617F基因突变的发生数为34例,PV的基因突变发生率明显高于ET、PMF;在34例JAK2V617F基因突变患者中有4例发生了疾病转化,转化率为11.8%,其中有1例由PV转化为MF,1例由ET转MF,1例为PV转ET,1例为PV转急性白血病。16例无基因突变患者中2例发生疾病转化,转化率为12.5%。JAK2V617F基因突变的患者发生疾病转化与无基因突变的患者发生疾病转化差异不大。结论骨髓增殖性肿瘤中的三种亚型的发生率与患者的JAK2V617F基因突变有关系,但三种亚型间的转化和JAK2V617F基因突变无相关性。Objective To analyze correlation between JAK2V617 F gene mutation and three subtypes of myeloproliferative neoplasms and their transformation. Methods Fifty patients with myeloproliferative neoplasms were collected and the gene mutation rate in three subtypes,which were polycythemia vera（ PV）,essential thrombocythemia（ ET） and primary myelofibrosis（ PMF）, and the relationship with disease transformation were analyzed. Results JAK2V617 F gene mutation was found in 34 patients. Gene mutation rate of PV patients was significantly higher than that of ET and PMF; In these 34 mutation cases,there were 4 cases with the disease transformation with 11. 8% conversion rate,in which there was 1 case with conversion from PV to MF,1 case from ET to MF,1 case from PV to ET,and 1 case from PV to acute leukemia. In other 16 cases without gene mutation,there were 2 patients with disease transformation with 12. 5% conversion rate. Conversion rate differences in patients with gene mutations or not were not statistically significant. Conclusion The occurrence rate of three subtypes of myeloproliferative neoplasms has relationship with JAK2V617 F gene mutation. But there is no correlation between subtypes transformation and JAK2V617 F gene mutation.

关 键 词：JAK2V617F基因突变 骨髓增殖性肿瘤 疾病转化 

分 类 号：R733.3[医药卫生—肿瘤]