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U2AF1基因突变的急性髓系白血病患者的临床特征及预后

Clinical Characteristics and Prognosis of U2AF1 Gene Mutation in Patients with Acute Myeloid Leukemia
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摘要 目的观察U2AF1基因突变的成人急性髓系白血病(AML)患者的临床特征及预后。方法对2016年1月至2019年12月就诊于郑州大学第一附属医院的690例AML患者的病历资料进行回顾性分析。按U2AF1突变与否将患者分为U2AF1未突变组(652例)和U2AF1突变组(38例)。比较两组临床特征及预后。结果690例AML患者中,U2AF1突变率为5.5%,常合并ASXL1、NRAS、SETBP1等基因突变。与U2AF1未突变组相比,U2AF1突变组外周血白细胞计数(WBC)、骨髓原始细胞比率低,预后中等及不良染色体核型多见,+8核型较多(P<0.05)。在625例可评估疗效的AML患者中,单因素分析发现,U2AF1突变组中位总生存期(OS)、中位无进展生存期(PFS)较U2AF1未突变组短,完全缓解(CR)率、2 a OS率较U2AF1未突变组低(P<0.05)。与未突变组相比,U2AF1 S34F突变组CR率较低,中位OS较短(P<0.05);两者中位PFS比较,差异无统计学意义(P>0.05)。U2AF1 S34Y突变组中位PFS较未突变组短(P<0.05);两者CR率、中位OS比较,差异无统计学意义(P>0.05)。多因素分析发现,U2AF1突变是影响<60岁AML患者OS、PFS的独立危险因素,1~2个疗程内达CR、接受造血干细胞移植、CEBPA双突变是影响<60岁AML患者OS及PFS的有利因素(P<0.05)。结论U2AF1突变在AML患者中发生率低,常与其他基因突变共存,预后中等及不良染色体核型多见。不同突变位点的预后意义不同。U2AF1突变是年轻(<60岁)AML患者的预后不良因素。 Objective To observe the clinical features and prognosis of adult acute myeloid leukemia(AML)patients with U2AF1 gene mutation.Methods The clinical data of 690 patients with AML from January 2016 to December 2019 in the First Affiliated Hospital of Zhengzhou University were analyzed retrospectively.The patients were divided into U2AF1 non-mutation group(652 cases)and U2AF1 mutation group(38 cases).The clinical features and prognosis of the two groups were compared.Results Among the 690 patients with AML,the rate of U2AF1 mutation was 5.5%,which was often associated with gene mutations such as ASXL1,NRAS,SETBP1 and so on.Compared with U2AF1 without mutation group,U2AF1 mutation group had lower peripheral white blood cell count(WBC)and bone marrow blast rate,moderate prognosis,more bad karyotypes and more+8 karyotypes(P<0.05).Among 625 AML patients with evaluable curative effect,univariate analysis showed that the median overall survival(OS)and median progression free survival(PFS)in U2AF1 mutation group were shorter than those in U2AF1 non-mutation group,and the complete remission(CR)rate and 2-year OS rate were lower in U2AF1 mutation group than those in U2AF1 non-mutation group(P<0.05).In the U2AF1 S34F mutation group,the CR rate was decreased and the median OS was shortened(P<0.05).There was no statistical difference in median PFS between U2AF1 S34F mutation group and non-mutation group(P>0.05).The median PFS of U2AF1 S34Y mutation group was shorter than that of non-mutation group(P<0.05).There was no statistical difference in CR rate and median OS between U2AF1 S34Y mutation group and non-mutation group(P>0.05).Multivariate analysis showed that U2AF1 mutation was an independent risk factor for OS and PFS in AML patients younger than 60 years old,and CR in 1-2 courses,hematopoietic stem cell transplantation and double mutation of CEBPA were favorable factors for OS and PFS in AML patients younger than 60 years old(P<0.05).Conclusion The incidence of U2AF1 mutation in AML patients is low,and it often coexists wi
作者 赵慧慧 谢新生 魏妍 吴瑞盈 姜中兴 万鼎铭 刘延方 孙玲 ZHAO Huihui;XIE Xinsheng;WEI Yan;WU Ruiying;JIANG Zhongxing;WAN Dingming;LIU Yanfang;SUN Ling(Department of Hematology,the First Affiliated Hospital of Zhengzhou University,Zhengzhou 450052,China)
出处 《河南医学研究》 CAS 2022年第12期2130-2134,共5页 Henan Medical Research
基金 河南省医学科技攻关计划省部共建项目(SBGJ2018016)。
关键词 急性髓系白血病 U2AF1基因 基因突变 acute myeloid leukemia U2AF1 gene gene mutation
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