JAK2 V617F阳性原发性骨髓纤维化转急性淋巴细胞白血病患者的临床特点  

Clinical characteristic of primary myelofibrosis with positive JAK2 V617F terminating in acute lymphoblastic leukemia

作　　者：孙媛媛[1] 柴晔[2] 刘瑛[2] 张连生[2] 

机构地区：[1]甘肃省人民医院儿科,兰州730010 [2]兰州大学第二医院血液科

出　　处：《白血病．淋巴瘤》2010年第10期584-586,共3页Journal of Leukemia & Lymphoma

摘　　要：目的报道1例罕见的JAK2V617F基因突变阳性原发性骨髓纤维化（PMF）患者转白血病前后的临床及实验室特征。方法发现1例PMF转T系急性淋巴细胞白血病（T—ALL）的患者，PCR方法检测患者转白血病前后的JAK2基因突变并进行定量检测，采集患者临床各指标。结果患者转白血病前后均为JAK2 V617F基因突变阳性，突变率分别为71．21％、83．56％。患者从诊断为PMF到转白血病的时间为22个月，转白血病到死亡的时间为27d。结论JAK2 V617F基因突变阳性的PMF转为T—ALL为罕见病例，临床预后差，生存时问短。Objective To report clinical and laboratory features of a rare case who was primary myelofibrosis （PMF） with positive JAK2 V617F terminating in T-acute lymphoblastic leukemia （T-ALL）. Methods A rare case of PMF terminating in ALL was found, the quantity and quality of JAK2 gene mutation were defined by PCR methods, collected the clinical dates. Results The JAK2 V617F gene mutations were all positive pre and post-blast, the mutant rates respectively were 71.21% and 83.56 %. The interval from PMF. to leukemia was 22 months, and from leukemia to death was 27 days. Conclusion PMF with positive JAK2 V617F terminating in ALL is a rare case, clinical prognosis is poor and survival time is short.

关 键 词：JAK2 V617F 骨髓纤维化 白血病 淋巴细胞 急性 

分 类 号：R733[医药卫生—肿瘤]