摘要
目的:分析骨髓增殖性肿瘤(MPN)发病率、血象、遗传基因学、临床表现以及疗效与转归,为日后临床研究中对其发病机制、诊断、治疗、预后判断等提供更多的理论依据。方法:回顾性分析208例BCR-ABL融合基因阴性的MPN患者的临床资料和相关实验室检测结果。结果:208例MPN患者中原发性血小板增多症(ET)患者占48. 56%(101/208),真性红细胞增多症(PV)患者占25. 96%(54/208),原发性骨髓纤维化(PMF)患者占25. 48%(53/208)。MPN临床表现多样,首发表现无特异性,起病缓慢。MPN患者中130例存在JAK2V617F基因突变,总突变率为62. 5%;其中PV组81. 5%(44/54),ET组58. 4%(59/101),PMF组50. 9%(27/53),PV患者的检出率通常显著高于ET、PMF(P <0. 05),ET、PMF患者的检出率差异无统计学意义(P> 0. 05)。在PV组,JAK2V617F基因阳性组白细胞计数明显增高(P=0. 007),血红蛋白、血小板计数差异无统计学意义(P> 0. 05);在ET组,JAK2V617F基因阳性患者有较高的白细胞计数(P=0. 045)和血红蛋白水平(P=0. 045),而血小板计数差异(P>0. 05)无统计学意义;在PMF患者中,JAK2V617F基因阳性患者有较高的白细胞计数(P=0. 04)和血红蛋白水平(P=0. 047),而血小板计数差异(P> 0. 05)无统计学意义。在MPN患者中发生血管事件最常见为缺血性脑血管病。JAK2V617F基因突变与血栓风险度相关(OR=2. 222,95%可信区间1. 101-4. 486)。ET、PV患者血管事件发生率的差异无统计学意义(P> 0. 05),PV、ET血管事件发生率显著高于PMF(P <0. 05); JAK2V617F基因阳性者可能更易出现疾病的转化。MPN患者经治疗疾病获得控制,但仍需维持治疗。结论:MPN几乎可以发生于任何年龄,但以中老年多见,其临床起病多样,临床表现诸多相似。JAK2V617F基因突变在MPN患者中有很高检出率,与MPN发病密切相关,突变率与疾病类型相关。JAK2V617F基因突变阳性者较突变阴性者白细胞计数高,但与血红蛋白、血小板计数尚无明确关系。JAK2V617F基因突变阳性者其血栓发生率较高。MPN患者经治疗可以获得较好的疾病控制,但仍需维持治疗,以减少疾病复发,控制并发症,获得长期生存。
Objective: To analyze the incidence,hemogram,genetics,clinical manifestations,therapeutic efficacy and outcome of patients w ith myeloproliferative neoplasms( M PN) so as to provide much more therapeutic basis for clinically studying the pathogenesis,diagnosis,and treatment as w ell as evaluating the prognosis of M PN patients.Methods: The clinical data and related laboratory test results in 208 cases of BCR/ABL fusion gene regative M PN w ere collected and analyzed retrospectively. Results: The M PN could occur at any age,but the highest incidence w as observed in patients aged 40-79. Among 208 patients w ith M PN,the patients w ith essential thrombocythemia( ET)accounted for 48. 56%( 101/208),the patients w ith polycythemia vera( PV) accounted for 25. 96%( 54/208),and the patients w ith primary myelofibrosis( PM F) accounted for 25. 48( 53/208). The clinical manifestation of M PN varied,the first manifestations w as no-specific,onset of disease presented slow. The JAK2V617 F gene mutation existed in 130 out of 208 patients w ith M PN,total mutation rate w as 62. 5%;JAK2V617 F mutation rate in PV patients w as 81. 5%( 44/54),while that in ET and PMF patients was 58. 4%( 59/101) and 50. 9%( 27/53) respectively,the detected rate of this mutation in PV patients w as significantly higher than that in ET and PM F patients( P < 0. 05),w hile there w as no significant difference betw een ET and PM F patients( P > 0. 05). In PV group,the WBC count of JAK2V617 F positive patients w as significantly enhanced( P < 0. 01),w hile there w ere no statistical differences of hemoglobin level and platelet count( P > 0. 05);in ET and PM F groups,the JAK2V617 F positive patients had a higher WBC count and hemoglobin level( P < 0. 05),w hile the difference of platelet count w as no significant( P > 0. 05). The most common vascular event in patients w ith M PN w as ischemic cerebrovascular disease. The JAK2V617 F mutation related w ith risk of thrombosis( OR = 2. 222,95% CI = 1. 101 to 4. 486). The difference in the incidence of vascular event betw een ET and PV patients w as no statistically significant( P > 0. 05),but the incidence of vascular event in ET and PV patients w as higher than that in PM F patients( P < 0. 05). The disease conversion much more easily happened in JAK2V617 F positive patients. After treatment,the M PN could be controlled,yet the maintained treatment is needed. Conclusion: The M PN can occur almost at any age,but more commonly occures in middle-aged and elderly persons. The onset of M PN varies,the clinical manifestation w as similar,a high detected rate of JAK2V617 F mutation is observed in M PN patients and relates closely w ith onset of M PN;moreover,JAK2V617 F mutation rate relates w ith type of M PN. The M PN patients w ith JAK2V617 F mutation have higher WBC count and higher incidence of thrombosis. After treatment,the M PN can be better controlled,and need maintenance treatment. So as to avoid the reccurence of disease,control the complications and obtain the long-term survival.
作者
沈庆慧
郭玉洁
薛春娥
王艳
林凤茹
SHEN Qing-Hui;GUO Yu-Jie;XUE Chun-E;WANG Yan;LIN Feng-Ru(Department of Hematology,Huludao Municipal Central Hospital,Huludao 125000,Liaoning Province,China;Department of Hematology,the Second Affiliated Hospital of Hebei Medical University,Shijiazhuang 050000,Hebei Province,China)
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2019年第1期159-164,共6页
Journal of Experimental Hematology
