132例BCR-ABL融合基因阴性骨髓增殖性肿瘤患者JAK2、CALR及MPL基因突变的临床分析  

Clinical significance of JAK2,CALR and MPL gene mutations in 132 myeloproliferative neoplasms patients with BCR-ABL fusion gene negative

作　　者：崔文静 朱华锋 董莹 辛晓丽 高山 冯苗娟 侯莉萍 常子维 于书春 苏小丽 赵亚萍 田志强 李丽宁 于岩 高广勋 Cui Wenjing;Zhu Huafeng;Dong Ying;Xin Xiaoli;Gao Shan;Feng Miaojuan;Hou Liping;Chang Ziwei;Yu Shuchun;Su Xiaoli;Zhao Yaping;Tian Zhiqiang;Li Lining;Yu Yan;Gao Guangxun(Department of Hematology,the First Affiliated Hospital of Air Force Medical University,Shaanxi Xi＇an 710032,China.)

机构地区：[1]空军军医大学第一附属医院血液内科,陕西西安710032

出　　处：《现代肿瘤医学》2018年第24期4011-4014,共4页Journal of Modern Oncology

摘　　要：目的:探讨BCR-ABL融合基因阴性的骨髓增殖性肿瘤(myeloproliferative neoplasms,MPN)患者JAK2、CALR及MPL基因突变情况及临床特征。方法:选取132例BCR-ABL融合基因阴性的MPN患者,其中真性红细胞增多症(polycythemia vera,PV) 27例,原发性血小板增多症(essential thrombocythemia,ET) 97例,原发性骨髓纤维化(primary myelofibrosis,PMF) 8例。骨髓抽提DNA,荧光定量PCR检测JAK2、CALR及MPL基因突变情况并分析临床特征,JAK2基因包含JAK2V617F、JAK2 N542_E543del、E543_D544del和JAK2K539L1/L2; CALR基因包含CALR L367fs~*46和CALR K385fs~*47,MPL基因包含MPL W515K/A/L/R1/R2/S和MPL S505N。结果:在132例BCR-ABL融合基因阴性的MPN患者中,仅有JAK2V617F、MPL W515K/A/L/R1/R2/S、CALR L367fs~*46和CALR K385fs~*47突变,突变率分别为48. 48%(64/132)、0. 76%(1/132)、10. 61%(14/132)和6. 06%(8/132),并且这几种突变不同时出现。PV中仅有JAK2V617F突变,突变率为74. 07%(20/27),ET中JAK2V617F、CALR L367fs~*46和CALR K385fs~*47突变率分别为42. 27%(41/97)、13. 40%(13/97)、8. 25%(8/97),PMF中JAK2V617F、CALR L367fs~*46和MPL W515K/A/L/R1/R2/S突变率分别为37. 50%(3/8)、12. 50%(1/8)和12. 50%(1/8)。在PV患者中,JAK2V617F突变阳性患者的白细胞(white blood cell,WBC)显著高于阴性患者(P <0. 05)。在ET患者中,JAK2V617F突变阳性患者的血红蛋白(hemoglobin,Hb)显著高于阴性患者(P <0. 05),CALR突变阳性患者的血小板(platelet,PLT)显著高于阴性患者(P <0. 05)。结论:基因检测为MPN的诊断及预后能提供更加方便、准确地依据,为相关的治疗提供更多的帮助。Objective： To explore the mutations and clinical features of JAK2,CALR and MPL,and the myeloproliferative neoplasms（ MPN） patients with BCR-ABL fusion gene negative were selected. Methods： A total of 132 MPN patients with BCR-ABL fusion gene negative were selected,including 27 cases of polycythemia vera（ PV）,97 cases of essential thrombocythemia（ ET）,and 8 cases of primary myelofibrosis（ PMF）. Then genomic DNA from bone marrow cells was extracted from 132 patients,then the JAK2,CALR and MPL gene mutation were tested with fluorescence quantitative PCR and clinical features were analysed. The tested JAK2 gene contained JAK2V617F,JAK2 N542_E543 del,E543_D544 del and JAK2 K539 L1/L2. CALR gene contained CALR L367fs＊ 46 and CALR K385fs＊ 47,and MPL gene include MPL W515 K/A/L/R1/R1/R2/S and MPL S505 N. Results： Among 132 MPN patients with BCR-ABL fusion gene negative,the positive mutation rates of JAK2V617F,MPL W515 K/A/L/R1/R2/S,CALR L367fs＊ 46 and CALR K385fs＊ 47 respectively were 48. 48%（ 64/132）,0. 76%（ 1/132）,10. 61%（ 14/132） and6. 06%（ 8/132）,and these kinds of mutations did not appeared at the same time,besides the other mutations were negative. In PV patients,the mutation rate of JAK2V617F was 74. 07%（ 20/27）. In ET patients,the mutation rates of JAK2V617F,CALR L367fs＊ 46 and CALR K385fs＊ 47 were 42. 27%（ 41/97）,13. 40%（ 13/97）,and 8. 25%（ 8/97） respectively. In PMF patients,the mutation rates of JAK2V617F,CALR L367fs＊ 46 and MPL W515 K/A/L/R1/R2/S respectively were 37. 50%（ 3/8）,12. 50%（ 1/8） and 12. 50%（ 1/8）. In the PV patients,white blood cell（ WBC） of JAK2V617F mutation-positive patients were significantly higher than negative patients（ P〈0. 05）. In the ET patients,hemoglobin（ Hb） of JAK2V617F mutation-positive patients were significantly higher than negative patients（ P〈0. 05）,and platelet（ PLT） for CALR mutation-positive were significantly higher than negative patients（ P〈0. 05）. Conclusion： Ge

关 键 词：骨髓增殖性肿瘤 JAK2 CALR MPL 

分 类 号：R733.3[医药卫生—肿瘤]