中华医学杂志
中華醫學雜誌
중화의학잡지
National Medical Journal of China
2015年
18期
1369-1373
,共5页
欧阳苑%乔纯%王菊娟%肖丽婵%张苏江
歐暘苑%喬純%王菊娟%肖麗嬋%張囌江
구양원%교순%왕국연%초려선%장소강
骨髓增殖性疾病%红细胞增多症,真性%原发性骨髓纤维化%血小板增多,自发性%基因,CALR
骨髓增殖性疾病%紅細胞增多癥,真性%原髮性骨髓纖維化%血小闆增多,自髮性%基因,CALR
골수증식성질병%홍세포증다증,진성%원발성골수섬유화%혈소판증다,자발성%기인,CALR
Myeloproliferative disorders%Polycythemia vera%Primary myelofibrosis%Thrombocythemia,essential%Genes,CALR
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.
目的 探討BCR-ABL融閤基因陰性骨髓增殖性腫瘤(MPN)患者CALR、JAK2及MPL基因突變情況及臨床特徵.方法 選取2009年1月至2014年1月于江囌省人民醫院就診的246例BCR-ABL陰性MPN患者,其中真性紅細胞增多癥(PV)48例,原髮性血小闆增多癥(ET)171例,原髮性骨髓纖維化(PMF)27例.採用PCR擴增產物直接測序法檢測患者骨髓或外週血CALR、JAK2V617F、JAK2外顯子12和MPL W515L/K基因突變的髮生情況併分析臨床特徵.結果 在246例BCR-ABL陰性MPN的患者中,CALR、JAK2 V617F、JAK2外顯子12、MPL W515L/K突變暘性患者分彆為52例(21.1％)、121例(49.2％)、0例(0)和2例(0.8％),併且這4種突變不同時齣現.在PV患者中,JAK2 V617F突變暘性患者的白細胞和血小闆計數均高于JAK2 V617F野生型患者,而血紅蛋白濃度低于JAK2 V617F野生型患者(均P＜0.05);在ET患者中,JAK2 V617F突變暘性患者的白細胞計數、血紅蛋白、危險分層和血管事件髮生率高于CALR突變暘性患者(均P＜0.05);在PMF患者中,JAK2 V617F突變暘性患者血紅蛋白濃度高于CALR突變暘性患者(均P＜0.05).結論 BCR-ABL陰性MPN的患者中,CALR突變暘性患者與JAK2 V617F突變暘性患者相比,骨髓增殖水平更低、髮生血管事件風險更低、危險分層更低,提示較好的預後,其緻病機製還有待于進一步研究.
목적 탐토BCR-ABL융합기인음성골수증식성종류(MPN)환자CALR、JAK2급MPL기인돌변정황급림상특정.방법 선취2009년1월지2014년1월우강소성인민의원취진적246례BCR-ABL음성MPN환자,기중진성홍세포증다증(PV)48례,원발성혈소판증다증(ET)171례,원발성골수섬유화(PMF)27례.채용PCR확증산물직접측서법검측환자골수혹외주혈CALR、JAK2V617F、JAK2외현자12화MPL W515L/K기인돌변적발생정황병분석림상특정.결과 재246례BCR-ABL음성MPN적환자중,CALR、JAK2 V617F、JAK2외현자12、MPL W515L/K돌변양성환자분별위52례(21.1％)、121례(49.2％)、0례(0)화2례(0.8％),병차저4충돌변불동시출현.재PV환자중,JAK2 V617F돌변양성환자적백세포화혈소판계수균고우JAK2 V617F야생형환자,이혈홍단백농도저우JAK2 V617F야생형환자(균P＜0.05);재ET환자중,JAK2 V617F돌변양성환자적백세포계수、혈홍단백、위험분층화혈관사건발생솔고우CALR돌변양성환자(균P＜0.05);재PMF환자중,JAK2 V617F돌변양성환자혈홍단백농도고우CALR돌변양성환자(균P＜0.05).결론 BCR-ABL음성MPN적환자중,CALR돌변양성환자여JAK2 V617F돌변양성환자상비,골수증식수평경저、발생혈관사건풍험경저、위험분층경저,제시교호적예후,기치병궤제환유대우진일보연구.
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.
