BCR-ABL阴性MPN患者CALR、JAK2及MPL基因突变分析
Analysis of CALR, JAK2 and MPL gene mutations in BCR-ABL negative myeloproliferative neoplasms
目的 探讨BCR-ABL融合基因阴性骨髓增殖性肿瘤(MPN)患者CALR、JAK2及MPL基因突变情况及临床特征.方法 选取2009年1月至2014年1月于江苏省人民医院就诊的246例BCR-ABL阴性MPN患者,其中真性红细胞增多症(PV)48例,原发性血小板增多症(ET)171例,原发性骨髓纤维化(PMF)27例.采用PCR扩增产物直接测序法检测患者骨髓或外周血CALR、JAK2V617F、JAK2外显子12和MPL W515L/K基因突变的发生情况并分析临床特征.结果 在246例BCR-ABL阴性MPN的患者中,CALR、JAK2 V617F、JAK2外显子12、MPL W515L/K突变阳性患者分别为52例(21.1%)、121例(49.2%)、0例(0)和2例(0.8%),并且这4种突变不同时出现.在PV患者中,JAK2 V617F突变阳性患者的白细胞和血小板计数均高于JAK2 V617F野生型患者,而血红蛋白浓度低于JAK2 V617F野生型患者(均P<0.05);在ET患者中,JAK2 V617F突变阳性患者的白细胞计数、血红蛋白、危险分层和血管事件发生率高于CALR突变阳性患者(均P<0.05);在PMF患者中,JAK2 V617F突变阳性患者血红蛋白浓度高于CALR突变阳性患者(均P<0.05).结论 BCR-ABL阴性MPN的患者中,CALR突变阳性患者与JAK2 V617F突变阳性患者相比,骨髓增殖水平更低、发生血管事件风险更低、危险分层更低,提示较好的预后,其致病机制还有待于进一步研究.
更多Objective To explore the mutational status of CALR,JAK2 and MPL genes in BCRABL negative myeloproliferative neoplasms (MPN) patients and the clinical features of MPN patients with these mutations.Methods A total of 246 patients with a definite diagnosis of BCR-ABL negative MPN were enrolled from January 2009 to January 2014 into this study.Among them,there were 48 cases of polycythemia vera (PV) patients,171 cases of essential thrombocythemia (ET) patients and 27 cases of primary myelofibrosis (PMF) patients.And CALR,JAK2 V617F,12 exons of JAK2 and MPL W515L/K genes were amplified by PCR and sequenced directly.Clinical features were also analyzed in patients.Results Among 246 cases of BCR-ABL-negative MPN patients,52 cases (21.1%) had CALR mutation,121 cases (49.2%) JAK2 V617F mutation,0 case (0) 12 exons of JAK2 mutation,and 2 cases (0.8%) MPL W515L/K mutation,respectively.These mutations were found existing exclusively.In PV patients,the white blood cell and platelet counts in JAK2 V617F mutated group were higher than those in wild-type JAK2 V617F group,while the level of hemoglobin was higher in wild-type JAK2 V617F group(all P < 0.05).In ET patients,the white blood cell count,the level of hemoglobin,the frequency of thromboembolic events and risk stratification in JAK2 V617F mutated group were higher than those in CALR mutated group(all P <0.05).In PMF patients,the level of hemoglobin in JAK2 V617F mutated group were significantly higher than those in CALR mutated group(P < 0.05).Conclusions The proliferative level of bone marrow,risk of thromboembolic events and stratification are lower in CALR mutated patients than those in JAK2 V617F mutated patients.The pathogenic mechanism of mutated gene should be further investigated in future.
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