骨髓增殖性肿瘤120例JAK2 V617F基因突变的临床分析

目的 探讨JAK2 V617F基因突变在骨髓增殖性肿瘤(MPN)患者中的发生率及临床意义.方法 采用骨髓细胞学和活组织检查方法分析120例患者的骨髓病理状况,监测费城染色体(Ph染色体)和bcr-abl融合基因.从患者骨髓抽提DNA,采用荧光定量PCR技术检测JAK2 V617F基因突变.结果 所有患者均呈现出MPN各自类型的典型特征.Ph染色体和bcr-abl融合基因检测均为阴性.120例MPN患者中JAK2 V617F基因突变的阳性率为66.7％(80/120),其中真性红细胞增多症(PV)为72.7％(16/22),原发性血小板增多症(ET)为66.0％(62/94),4例原发性骨髓纤维化(PMF)患者中2例阳性.JAK2 V617F突变阳性PV患者的外周血白细胞计数(P=0.001)和血小板计数(P=0.010)均高于阴性患者;JAK2 V617F突变阳性ET患者的白细胞计数高于阴性患者(P=0.006);PMF中JAK2V617F突变阳性和阴性患者间各项指标差异均无统计学意义(均P＞0.05).结论 JAK2 V617F基因突变检测有助于bcr-abl阴性MPN的诊断和鉴别诊断,使患者能够在早期被发现和治疗.

Clinical analysis of JAK2 V617F gene mutation in 120 patients with myeloproliferative neoplasms

Objective To investigate the JAK2 V617F gene mutations in myeloproliferative neoplasms (MPN) patients and its clinical significance.Methods 120 patients were detected bone marrow pathological conditions with bone marrow cytology and biopsy analysis,and monitored the Ph chromosome and bcr-abl fusion gene.Genomic DNA from bone marrow cells was extracted from 120 patients,JAK2 V617F gene mutations were tested by fluorescence quantitative PCR.Results All patients of each MPN type presented their typical characteristics.Ph chromosome and bcr-abl fusion gene were negative.The positive rate of JAK2 V617F gene mutations was 66.7 ％ (80/120),among them the positive rate in polycythemia vera (PV) was 72.7 ％ (16/22),the positive rate in essential thrombocythemia (ET) was 66.0 ％ (62/94),and among 4 patients primary myelofibrosis (PMF) JAK2 V617F was positive in 2 cases.In JAK2 V617F positive PV patients,the white blood cell count (P =0.001) and platelet count (P =0.01) were significantly higher than those in negative patients.In JAK2 V617F positive ET patients,the white blood cell count was significantly higher than that in negative patients (P =0.006).In PMF patients,there was no significant difference (P ＞ 0.05).Conclusion JAK2 V617F gene mutations testing is helpful to the diagnosis and definite diagnosis of bcr-abl negative MPN,which promote the early detection and treatment.