首诊为急性缺血性脑卒中患者的骨髓增殖性肿瘤相关基因突变研究

Mutation analysis of myeloproliferative neoplasms associated genes in patients first diagnosed as acute ischemic stroke

目的 分析首诊为急性缺血性脑卒中（AIS）患者的骨髓增殖性肿瘤（MPN）相关JAK2、MPL和CALR基因突变发生情况.方法 收集378例AIS患者的外周血标本和临床资料.用等位基因特异性PCR和Sanger基因测序法检测患者基因组DNA中JAK2 V617F、JAK2 Exon12、MPL Exon10和CALR Exon9基因突变,并分析突变阳性患者的病史、临床资料、外周血细胞分类计数以及其他辅助检查结果.结果 共检测到5例（1.3％）患者JAK2 V617F突变阳性,1例（0.3％）CALR基因突变阳性,总阳性率为1.6％.其中2例JAK2 V617F突变阳性患者的外周血血红蛋白水平达到MPN的诊断标准.结论 约1.6％的首诊为AIS的患者可检测到JAK2 V617F或CALR突变,这部分患者可能处于MPN的早期阶段.

Objective To detect mutations of JAK2,MPL and CALR genes which are associated with myeloproliferative neoplasms （MPN） in patients first diagnosed as acute ischemic stroke （AIS）.Methods Peripheral blood and detailed clinical data of 378 AIS patients were collected.Allele specific PCR and Sanger sequencing were used to detect mutations of JAK2 V617F,JAK2 Exon12,MPL Exon10 and CALR Exon9.For patients in whom mutations were detected,detailed clinical data and auxiliary examination and laboratory test results were further analyzed.Results A total of 6 （1.6 %） patients harbored mutations in the genes detected,5 of them （1.3 %） were positive of JAK2 V617F mutation and the other one （0.3 %） carried mutation in the CALR gene.The hemoglobin contents of 2 patients who were positive of JAK2 V617F mutation met the diagnostic criteria of MPN.Conclusion About 1.6 % patients who were first diagnosed as AIS harbor mutations of JAK2 V617F or CALR,and they may at the early stage of MPN.