原发性骨髓纤维化患者骨髓病理特点及JAK2 V617F基因突变研究  

Study on the pathological features of the bone marrow and JAK2 V617F gene mutation in patients with primary myelofibrosis

作　　者：苏小丽[1] 冯苗娟 侯莉萍[1] 朱华锋[1] 常子维[1] 田志强[1] 于书春[1] 于岩[1] 高广勋[1] 陈协群[1] 梁蓉[1] 

机构地区：[1]第四军医大学西京医院血液内科,西安710032

出　　处：《白血病．淋巴瘤》2015年第7期437-439,共3页Journal of Leukemia & Lymphoma

摘　　要：目的 探讨原发性骨髓纤维化（PMF）患者的骨髓病理特点,检测JAK2 V617F突变的发生率,分析JAK2 V617F突变对PMF患者血细胞及骨髓纤维组织增生的影响.方法 37例PMF患者的骨髓切片经苏木精-吉姆萨-伊红（HGE）染色及Gomori染色后进行形态学研究,采用荧光定量PCR技术检测患者骨髓中JAK2 V617F基因突变情况.结果 37例PMF患者中JAK2 V617F基因突变阳性率为54％（20/37）.突变阳性组患者白细胞计数和血小板计数分别为（12.79±3.54）×109/L和（312.47±203.81）×109/L,高于突变阴性组的（4.22±2.07）×109/L和（136.43±104.87）×109/L,差异均有统计学意义（t=3.158,P=0.025;t=2.623,P=0.046）,但两组患者血红蛋白数和纤维组织增生程度比较,差异均无统计学意义（均P＞0.05）.结论 JAK2 V617F基因突变检测对PMF,特别是白细胞计数和血小板计数增高的PMF诊断有一定意义.Objective To investigate the pathological features of the bone marrow and the mutation of JAK2 V617F gene in patients with primary myelofibrosis （PMF）,and analyze the effects of JAK2 V617F mutation on myelofibrosis and the number of hemocytes in patients with PMF.Methods The morphological features of 37 patients with PMF were studied by HGE and Gomori staining.The mutation of JAK2 V617F gene in marrow samples from patients was detected by fluorescence quantitative PCR.Results The positive rate of JAK2 V617F gene mutation in 37 patients with PMF was 54 % （20/37）.JAK2 V617F positive patients had higher counts of white blood cell and platelet in peripheral blood [（12.79±3.54） × 109/L and （312.47± 203.81） × 109/L] than JAK2 V617F negative patients [（4.22±2.07） × 109/L and （136.43±104.87） × 109/L] （t =3.158,P =0.025;t =2.623,P =0.046）.The two groups had no significant difference between the counts of hemoglobin and the level of fiber hyperplasy in bone marrow （both P 〉 0.05）.Conclusion JAK2 V617F gene mutation detection is important for diagnosis of PMF,especially those with high counts of white blood cell and platelet.

关 键 词：原发性骨髓纤维化 病理学 临床 JAK2 V617F基因突变 

分 类 号：R551.3[医药卫生—血液循环系统疾病]