CAJ | 학술논문

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.
목적 탐토JAK2 V617F기인돌변재골수증식성종류(MPN)환자중적발생솔급림상의의.방법 채용골수세포학화활조직검사방법분석120례환자적골수병리상황,감측비성염색체(Ph염색체)화bcr-abl융합기인.종환자골수추제DNA,채용형광정량PCR기술검측JAK2 V617F기인돌변.결과 소유환자균정현출MPN각자류형적전형특정.Ph염색체화bcr-abl융합기인검측균위음성.120례MPN환자중JAK2 V617F기인돌변적양성솔위66.7％(80/120),기중진성홍세포증다증(PV)위72.7％(16/22),원발성혈소판증다증(ET)위66.0％(62/94),4례원발성골수섬유화(PMF)환자중2례양성.JAK2 V617F돌변양성PV환자적외주혈백세포계수(P=0.001)화혈소판계수(P=0.010)균고우음성환자;JAK2 V617F돌변양성ET환자적백세포계수고우음성환자(P=0.006);PMF중JAK2V617F돌변양성화음성환자간각항지표차이균무통계학의의(균P＞0.05).결론 JAK2 V617F기인돌변검측유조우bcr-abl음성MPN적진단화감별진단,사환자능구재조기피발현화치료.
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.