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

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.