中西方骨髓增生异常肿瘤临床和实验室特征及生存的比较研究  

Differences in clinical and laboratory features and survival between Chinese and Western patients with myelodysplastic neoplasm

作　　者：刘琳琳 李冰 秦铁军 徐泽锋 曲士强 潘丽娟 高清妍 焦蒙 贾玉娇 李承文 孙琦 王慧君 肖志坚 Liu Linlin;Li Bing;Qin Tiejun;Xu Zefeng;Qu Shiqiang;Pan Lijuan;Gao Qingyan;Jiao Meng;Ja Yujiao;Li Chenwen;Sun Qi;Wang Huijun;Xiao Zhijian(State Key Laboratory of Experimental Hematology,National Clinical Research Center for Blood Diseases,Haihe Laboratory of Cell Ecosystem,Institute of Hematology&Blood Diseases Hospital,Chinese Academy of Medical Sciences&Peking Union Medical College,Tianjin 300020,China;Tianjin Institutes of Health Science,Tianjin 301600,China)

机构地区：[1]中国医学科学院血液病医院(中国医学科学院血液学研究所),血液与健康全国重点实验室,国家血液系统疾病临床医学研究中心,细胞生态海河实验室,天津300020 [2]天津医学健康研究院,天津301600

出　　处：《中华血液学杂志》2025年第3期223-230,共8页Chinese Journal of Hematology

基　　金：中国医学科学院医学与健康科技创新工程项目(2023-I2M-2-007、2022-I2M-1-022);国家自然科学基金(82170139)。

摘　　要：目的比较中西方骨髓增生异常肿瘤(MDS)临床和实验室特征及生存特点。方法纳入自2016年8月至2024年6月于中国医学科学院血液病医院确诊的1464例原发性初治成人MDS患者和国际预后工作组(IWG-PM)的2191例MDS患者,回顾性分析比较两组患者临床和实验室特征及生存情况。结果我中心患者较IWG-PM患者更年轻(中位年龄56岁对72岁,P<0.001);三系血细胞计数更低(均P<0.001);染色体核型出现单独del(20q)、+8和复杂核型的比例较高,正常核型、del(5q)、-Y比例较低(均P<0.001);U2AF1、NRAS、NPM1基因突变率较高(均P<0.05),而ASXL1、SF3B1、RUNX1等基因突变率较低(P值均<0.05);总生存(OS)期与IWG-PM组患者相比差异无统计学意义[48(95%CI 40~56)个月对45(95%CI 40~49)个月,P=0.449]。年龄≤45岁的患者中,我中心患者有更高比例的染色体+8(P=0.070)和U2AF1基因突变(P<0.001),4年OS率更高(75.5%对62.1%,P=0.001);年龄≥70岁的患者中,我中心患者del(20q)和复杂核型检出率更高(P值均<0.05),del(5q)和正常核型检出率更低(P值均<0.05),NPM1基因突变率较高(P=0.004),SF3B1和TET2突变率较低(P值均<0.05),OS期更短[20(95%CI 13~27)个月对37(95%CI 32~42)个月,P<0.001]。结论我国与西方MDS患者在发病年龄、临床特征及细胞分子遗传学异常等实验室特征方面存在差异,年龄相近的中西方患者间差异仍然显著。中西方患者总体生存无显著差异,但年轻和老年患者的生存期在中西方之间存在差异。ObjectiveTo compare the clinical and laboratory characteristics and survival between Chinese and Western patients with myelodysplastic neoplasms(MDS).MethodsClinical and laboratory data were collected from 1,464 primary adult patients diagnosed with MDS at the Institute of Hematology&Blood Diseases Hospital from August 2016 to June 2024.Collected data were retrospectively analyzed and compared with 2,191 patients from the International Working Group for the Prognosis of Myelodysplastic Syndromes(IWG-PM).ResultsChinese patients were significantly younger(median age:56 years vs.72 years,P<0.001)and experienced more severe hematopenia(P<0.001)compared with patients from the IWG-PM.Further,Chinese patients exhibited a higher percentage of isolated del(20q),+8,and complex karyotypes as well as a lower percentage of normal karyotypes,del(5q),and-Y(P<0.001).Higher U2AF1,NRAS,and NPM1 mutation rates and lower ASXL1,SF3B1,and RUNX1 mutation rates were observed in Chinese patients than in participants from the IWG-PM(P<0.05).No significant difference in overall survival(OS)was found between the two groups(median OS:48[95%CI:40-56]months,vs.45[95%CI:40-49]months;P=0.449).Among participants aged≤45 years,Chinese patients demonstrated more trisomy 8(P=0.070)and U2AF1 mutation(P<0.001)and higher 4-year OS rate compared with those from the IWG-PM(75.5%vs.62.1%,P=0.001).Among participants aged≥70 years,Chinese patients exhibited more complex karyotypes but fewer del(5q)as well as more NPM1 but less SF3B1 and TET2 compared with those from the IWG-PM(P<0.05).Chinese patients demonstrated shorter survival(median OS:20[95%CI:13-27]months vs.37[95%CI:32-42]months,P<0.001).ConclusionChinese and Western MDS patients differ in age of onset,clinical features,and cytogenetic or molecular genetic abnormalities,with significant differences persisting in age-matched groups.Although the OS is similar,disparities exist in survival for younger and older patients between the two populations.

关 键 词：骨髓增生异常肿瘤 细胞遗传学 基因突变 预后 

分 类 号：R733.3[医药卫生—肿瘤]