伴有JAK2 V617F突变的慢性中性粒细胞白血病1例并文献复习  

Chronic neutrophilic leukemia with an associated V617F JAK2 tyrosine kinase mutation

作　　者：张男[1] 庄倩[1] 王韫秀[1] 刘璇[1] 张继红[1] 

机构地区：[1]中国医科大学附属盛京医院血液研究室,辽宁沈阳110022

出　　处：《现代肿瘤医学》2012年第5期1017-1019,共3页Journal of Modern Oncology

基　　金：沈阳市科学技术计划项目(编号:F10-218-1-00)

摘　　要：目的:探讨伴有JAK2基因V617F突变的慢性中性粒细胞白血病(CNL)的实验室特征。方法:通过骨髓涂片进行细胞形态学分析诊断;采用实时荧光定量PCR方法检测BCR-ABL融合基因;实时荧光定量PCR方法及DNA测序方法检测JAK2 V617F突变;RHG显带进行常规染色体核型分析。结果:细胞形态学诊断为慢性中性粒细胞白血病;BCR/ABL融合基因为阴性;存在JAK2 V617F杂合突变;染色体分析结果为正常核型。结论:JAK2 V617F突变在慢性中性粒细胞白血病中很少见,具有该突变的CNL患者有较长的生存期,JAK2 V617F突变可能提示预后良好。Objective：To investigate the laboratory character of chronic neutrophilic leukemia（CNL） with an associated V617F JAK2 tyrosine kinase mutation.Methods： To diagnoze CNL by cell morphology,detect BCR-ABL fusion gene by real-time quantitative PCR,and V617F JAK2 tyrosine kinase mutation by real-time quantitative PCR and DNA sequencing;To analyze chromosome karyotype.Results： CNL was diagnosed by cell morphology.BCR-ABL fusion gene（negative）;existence of V617F JAK2 tyrosine kinase mutation,normal karyotype were observed.Conclusion： V617F JAK2 tyrosine kinase mutation is rare in CNL,CNL with an associated V617F JAK2 tyrosine kinase mutation has a long survival and may predict good prognosis.

关 键 词：慢性中性粒细胞白血病 JAK2V617F突变 预后 

分 类 号：R733.72[医药卫生—肿瘤]