80例急性髓性白血病M2型患者JAK2V617F基因突变的检测及临床意义  

Detection of JAK2V617F mutation and its clinical significance in 80 patients with M2 acute myelogenous leukemia

作　　者：沈益民[1] 晁红颖[1] 张日[1] 李渭阳[1] 冯宇峰[1] 朱子玲[1] 薛永权[1] 

机构地区：[1]苏州大学附属第一医院血液科江苏省血液病研究所,215006

出　　处：《中华肿瘤杂志》2009年第5期366-370,共5页Chinese Journal of Oncology

摘　　要：目的探讨JAK2V617F基因突变在急性髓性白血病M2型（AML—M2）患者中的发生率和临床预后意义。方法采用等位基因特异性聚合酶链反应（AS—PCR）技术，检测80例AML—M2患者的JAK2V617F基因突变情况。结果80例AML—M2患者中，初诊时JAK2V617F基因突变6例，复发时JAK2V617F基因突变1例，JAK2V617F基因的突变率为8．8％。7例JAK2V617F基因突变者的血象和骨髓象均呈现出白血病改变特征，而无骨髓增殖性疾病（MPD）征象；免疫分型显示为髓系表达。接受治疗的5例JAK2V617F基因突变者中，有4例患者在治疗后达到完全缓解，1例未缓解；除1例失访外，其余4例患者的中位生存期为18．5个月。结论JAK2V617F基因突变作为AML发病机制中的I类突变，可能并不是AML发病的初始事件；初诊AML患者出现JAK2V617F基因突变也并不意味着疾病预后较差。Objective To explore the prevalence and prognostic significance of JAK2V617F gene mutation in acute myelogenous leukemia M2 （AML-M2） patients. Methods Allele specific polymerase chain reaction （PCR） was used to detect JAK2 gene mutation. Results Of 80 de novo AML-M2 patients, 6 at the time of first diagnosis and 1 at relapse were found to have JAK2V617F gene mutation （8.8%, 7/80）. Morphologically, the whole blood and bone marrow of the 7 AML-M2 patients with JAK2V617F gene mutation presented a picture of acute leukemia instead of myeloproliferative disorders. Immunophenotypically, bone marrow samples showed myelogenous linage expression. Complete remission was obtained in 4 of 5 AML-M2 patients with JAK2V617F mutation who received treatment, while one patient had no response to the treatment. Follow-up was performed in all the 5 patients, with a median survival of 18.5 months in 4 patients. Conclusion JAK2V617F gene mutation, as a type-1 mutation, might not be an initial event in the pathogenesis of acute myelogenous leukemia, and its presentation does not mean a poor prognosis in de novo AML patients.

关 键 词：白血病 髓性 JAK2V617F基因 突变 

分 类 号：R686[医药卫生—骨科学]