CAJ | 학술논문

目的：分析110例骨髓增殖性肿瘤( MPN)患者JAK2 V617F突变情况及其与临床相关参数的关系。方法：收集湖南省人民医院2011年9至2012年7月及长沙地区另外3家医院2012年1-10月间接诊的MPN初诊患者骨髓标本共110例，包括真性红细胞增多症(PV)44例、原发性血小板增多症(ET)55例和原发性骨髓纤维化(PMF)11例，以同期2例健康志愿者的骨髓标本作为对照。 PCR扩增并直接进行基因测序检测JAK2 V617F基因突变情况，分析JAK2 V617F突变与患者性别、疾病类型、年龄及外周血血红蛋白( Hb )含量、白细胞( WBC )和血小板( PLT )计数等的关系。结果：110例 MPN 患者 JAK2 V617F突变阳性率67.3％(74/110)。其中PV、ET及PMF患者中JAK2 V617F突变阳性率分别为70.5％(31/44)、70.9％(39/55)、36.4％(4/11)。 JAK2 V617F突变型PV患者的年龄、外周血WBC、PLT计数均高于野生型患者，JAK2 V617F突变型ET患者的年龄、外周血 WBC计数、Hb含量均高于野生型患者， JAK2 V617F突变型 PMF 患者外周血 Hb 含量高于野生型患者(均 P <0.05)。结论：MPN 患者 JAK2 V617F突变与患者发病年龄和血象指标有关联。
목적：분석110례골수증식성종류( MPN)환자JAK2 V617F돌변정황급기여림상상관삼수적관계。방법：수집호남성인민의원2011년9지2012년7월급장사지구령외3가의원2012년1-10월간접진적MPN초진환자골수표본공110례，포괄진성홍세포증다증(PV)44례、원발성혈소판증다증(ET)55례화원발성골수섬유화(PMF)11례，이동기2례건강지원자적골수표본작위대조。 PCR확증병직접진행기인측서검측JAK2 V617F기인돌변정황，분석JAK2 V617F돌변여환자성별、질병류형、년령급외주혈혈홍단백( Hb )함량、백세포( WBC )화혈소판( PLT )계수등적관계。결과：110례 MPN 환자 JAK2 V617F돌변양성솔67.3％(74/110)。기중PV、ET급PMF환자중JAK2 V617F돌변양성솔분별위70.5％(31/44)、70.9％(39/55)、36.4％(4/11)。 JAK2 V617F돌변형PV환자적년령、외주혈WBC、PLT계수균고우야생형환자，JAK2 V617F돌변형ET환자적년령、외주혈 WBC계수、Hb함량균고우야생형환자， JAK2 V617F돌변형 PMF 환자외주혈 Hb 함량고우야생형환자(균 P <0.05)。결론：MPN 환자 JAK2 V617F돌변여환자발병년령화혈상지표유관련。
Objective:To analyze the JAK2 V617F mutation in 110 patients with myeloproliferative neoplasm (MPN) and the correlation with clinical characteristics. Methods: We collected the bone marrow specimens derived from 110 patients with MPN who were admitted to Hunan People ’ s Hospital between September 2011 and July 2012 and to three miscellaneous hospitals between January and October 2012. Of these cases, 44 had polycythemia vera ( PV ) , 55 essential thrombocythemia ( ET ) and 11 primary myelofibrosis ( PMF ) . Two healthy subjects who took consent to donate bone marrow served as the blank controls. Bone marrow specimens were subject to polymerase chain reaction for gene amplification and gene sequencing for assessment of JAK2 V617F mutation. This entailed the analysis on the correlation with sex, subtype of MPN, age and peripheral blood hemoglobin ( Hb) , white blood cell ( WBC) and platelet ( PLT) count. Results: Of the 110 patients recruited, MPN yielded a positive rate of 67. 27% for JAK2 V617F mutation, the incidence of which was 70. 45% (31/44), 71. 4% (39/55) and 30% (4/11) for PV, ET and PMF, respectively. Compared with patients with wildtype genotypes, those with PV who had JAK2 V617F mutations were associated with increased WBC and PLT counts. Patients with ET who had JAK2V 617F mutants were of advanced age and yielded higher WBC count and Hb. In addition, patients with PMF who had JAK2 V617F mutants presented with increased peripheral blood Hb compared with those who had wildtype genotypes. Conclusion: In patients with MPN, the JAK2 V617F mutation is associated with the age of onset and hematological indices.