高分辨熔解曲线法检测112例JAK2V617F基因突变及回顾性分析

Retrospective study on high resolution melting curve analysis for detecting JAK2V617Fmutation in 112patients

目的:探讨JAK2V617F基因突变在骨髓增殖性肿瘤(MPN)中的诊断、鉴别诊断和治疗后追踪监测的意义。方法:采用高分辨熔解曲线分析技术(HRM)检测112例患者JAK2V617F基因突变情况,结合临床资料进行回顾性分析。结果:77例确诊MPN中有57例检测到JAK2V617F突变阳性,阳性率74%。其中真性红细胞增多症(PV)阳性率87.5%(21/24),原发性血小板增多症(ET)阳性率69.77%(30/43),原发性骨髓纤维化(PMF)阳性率60%(6/10)。血常规异常而未能诊断MPN的35例样本JAK2V617F突变均为阴性。追踪监测28例经正规治疗后血常规好转并稳定2年的MPN患者JAK2V617F突变情况,19例JAK2V617F突变阳性患者有18例呈持续阳性,有1例转为阴性;9例JAK2V617F突变阴性患者均呈持续阴性。结论:HRM技术检测JAK2V617F突变可用于临床辅助诊断MPN及鉴别继发性血小板或红细胞增高症,并适用于治疗后追踪观察。

Objective：To detect the significance of JAK2V617Fmutation in diagnosis,differential diagnosis and monitoring post-treatment for myeloproliferative neoplasms（MPN）.Method：JAK2V617Fmutation in 112samples were detected by high resolution melting curve analysis（HRM）assay.The clinical characteristics were retrospectively analyzed.Result：JAK2V617Fmutation was detected in 57（74%）of 77patients with MPN,21（87.5%）of 24patients with PV,30（69.77%）of 43patients with ET,and 6（60%）of 10patients with PMF.There was no JAK2V617Fmutation detected in 35patients with suspected MPN.28patients with improved stability were detected repeatedly pre-and post-treatment in 2years.Among 19patients with JAK2V617F mutation pre-treatment,the mutation kept positive in 18patients,but changed into negative in 1patient.In 9patients without mutation,this mutation kept negative during follow-up.Conclusion：Detection of JAK2V617Fmutation by HRM technique is an effective method,which is useful for diagnosis,differential diagnosis and monitoring the disease status post-treatment for MPN.