摘要
目的 评价核苷酸焦磷酸酶15(NUDT15)基因多态性检测预测硫唑嘌呤相关白细胞减少(TIL)的准确性、敏感性、特异性和经济性,为临床决策提供循证依据。方法 系统检索PubMed、Cochrane图书馆、中国国家知识基础设施(CNKI)、万方数据库、维普中文科技期刊数据库(VIP)等数据库以及多个卫生技术评估(HTA)机构官网,纳入有关TIL的基因多态性检测的HTA报告、系统评价或Meta分析以及经济学研究,并对这些证据进行质量评估。对准确性、敏感性、特异性结果进行定量描述,对经济学评价结果进行定性描述。结果 共纳入文献9篇,其中Meta分析文献7篇、经济学文献2篇。在东亚、南亚以及美洲,rs116855232突变率高,纳入的研究中该位点的突变率11.07%~40.52%。与对照组比较,rs116855232突变组(TT/TC)发生白细胞减少的风险大大高于非突变组。2项研究报道了NUDT15基因多态性检测预测TIL的敏感性和特异性,得出了近似的敏感性分别为0.432,0.413,特异性分别为0.917,0.89。在经济性方面NUDT15联合硫嘌呤甲基转移酶(TPMT)相比单独筛查TPMT具有成本-效果优势。结论 基于现有证据,rs116855232是TIL的临床相关预测因子,相比TPMT具有更高的准确性、灵敏性和特异性。与单独对进行TMPT筛查相比,联合筛查NUDT15和TPMT缺陷等位基因具有经济性。
Objective To evaluate the accuracy sensitivity,specificity and economy of nucleotide pyrophosphatase linked moiety X-type motif 15(NUDT15)gene polymorphism detection in predicting thiopurine-induced leukopenia(TIL),and to provide evidence-based basis for clinical decision-making.Methods The databases were systematic searched,including PubMed,Cochrane Library,China National Knowledge Infrastructure(CNKI)、Wanfang Data,VIP Database for Chinese Technical Periodicals(VIP),as well as the official websites of health technology assessment(HTA)institutions.HTA reports,systematic reviews or meta-analyses,and pharmacoeconomic studies on genetic polymorphism testing for TIL were included,and the quality of the evidence was assessed.The accuracy,sensitivity and specificity are quantitatively described,and the economic evaluation results are qualitatively described.Results A total of 9 literatures were included,of which 7 were meta-analysis literatures and 2 were economics literatures.In East Asia,South Asia and the America,the mutation rate of rs116855232 was high,and the mutation rate of this locus in the included studies was 11.07%-40.52%.Compared with the control group,the risk of leukopenia in the rs116855232 mutant group(TT/TC)was significantly higher than that in the non-mutated group.Two studies reported the sensitivity and specificity of the NUDT15 gene polymorphism assay for predicting TIL,yielding an approximate sensitivity of 0.432,0.413,and specificity of 0.917,0.89,respectively.In terms of economy,NUDT15 combined with TPMT has a cost-effectiveness advantage over screening TPMT alone.Conclusion Based on the available evidence,rs116855232 is a clinically relevant predictor of TIL with higher accuracy,sensitivity and specificity than TPMT.Combined screening for NUDT15 and TPMT-deficient alleles is economical compared to screening for TPMT alone.
作者
朱濛昕
谢诚
陈之遥
张晶晶
奚沁华
朱建国
李芸
ZHU Mengxin;XIE Cheng;CHEN Zhiyao;ZHANG Jingjing;XI Qinhua;ZHU Jianguo;LI Yun(Department of Gastroenterology,the First Affiliated Hospital of Soochow University,Suzhou 215000,China;Department of Pharmacy,the First Affiliated Hospital of Soochow University,Suzhou 215000,China)
出处
《医药导报》
CAS
北大核心
2023年第5期718-724,共7页
Herald of Medicine
基金
江苏省药学会奥赛康医院药学基金项目(A202115)。
关键词
硫唑嘌呤
白细胞减少
基因检测
卫生技术评估
Azathioprine
Leukopenia
Genetic testing
Health technology assessment
