基于多种基因突变状态的骨髓增生异常综合症患者预后预测模型的构建与验证  

Construction and validation of predictive nomogram concerning overall survival in MDS patients with multiple gene mutation

作　　者：尚硕红[1] 糟秀梅 何瑛[1] 马强[1] 权晓燕 SHANG Shuohong;ZAO Xiumei;HE Ying;MA Qiang;QUAN Xiaoyan(Department of Hematology,the First People's Hospital of Yinchuan,Yinchuan 750001,China)

机构地区：[1]宁夏银川市第一人民医院血液内科,宁夏银川750001

出　　处：《宁夏医学杂志》2021年第3期200-202,共3页Ningxia Medical Journal

摘　　要：目的基于多种基因突变构建骨髓增生异常综合症(MDS)患者总生存(OS)的预测列线图,并进行验证。方法回顾性纳入156例MDS患者临床资料,观察指标有年龄、基因突变检测结果、修订的国际预后积分系统(IPSS-R)分级等。依收治时间顺序将前2/3(104例)纳入试验组,后1/3(52例)纳入验证组,试验组再根据随访期间存活情况分为存活组和死亡组,对上述指标行单因素分析和COX回归分析,分析患者OS相关因素。建立OS影响因素列线图模型并验证。结果最终纳入150例患者,死亡组年龄、ASXL1、SRSF2、DNMT3A、TP53突变例数均高于存活组,2组IPSS-R分级有统计学意义(P<0.05);年龄、ASXL1、SRSF2、DNMT3A、TP53(OR=1.099、5.404、12.221、14.116、9.602,P<0.05)为患者3年OS危险因素,IPSS-R分级低危和中危(OR=0.042、0.131,P<0.05)为保护因素;列线图预测MDS患者3年OS的一致性指数为0.921(95%Cl 0.881~0.939)。结论ASXL1、SRSF2、DNMT3A、TP53基因突变与MDS患者预后相关,根据年龄、突变基因、IPSS-R分级构建的列线图可有效预测患者OS情况,未来可用于预后分层。Objective To construct and validate predictive nomogram concerning overall survival in Myelodysplastic Syndrome(MDS)patients with multiple gene mutation.Methods A nomogram for predicting survival in MDS patients with multiple gene mutation was developed using clinical data from 156 patients treated in our hospital from May 2015 to May 2017.Age,test results for genetic mutations,revised international prognostic scoring system(IPSS-R)were recorded.The first 2/3(104 cases)were included in the experimental group and the last 1/3(52 cases)were included in the validation group according to the time sequence of admission.The experimental group was then divided into survival group and death group according to the survival situation during the follow-up period.Univariate analysis and COX regression were performed to analysis the related factors of OS.And the predictive nomogram was established and verified.Results A total of 150 cases were enrolled this study.The age,ASXL1,SRSF2,DNMT3A and TP53 mutations in the death group were higher than those in the survival group.The IPSS-R classification of the two groups was statistically significant(P<0.05).Age,ASXL1,SRSF2,DNMT3A and TP53(OR=1.099、5.404、12.221、14.116、9.602,P<0.05)were the risk factors of 3-year OS in MDS patients.Medium and low risk(OR=0.042、0.131,P<0.05)were protective factors in IPSS-R;The consistency index(C-index)of nomogram for predicting 3-year-OS in MDS patients was 0.921(95%Cl 0.881~0.939).Conclusion ASXL1,SRSF2,DNMT3A and TP53 mutations are related to prognosis in MDS patients,and the nomogram composed of age,mutated gene and IPSS-R can help predict patients’OS.

关 键 词：基因突变 骨髓增生异常综合症 列线图 总生存 

分 类 号：R730.7[医药卫生—肿瘤]