CPIC专家小组发布TPMT和NUDT15等位基因临床功能分级
Clinical Functional Assignment of TPMT and NUDT15 Alleles by the Clinical Pharmacogenetics Implementation Consortium Pharmacogene Curation Expert Panel
作者：Bailey M. Tibben、Maud Maillard、Victoria M. Pratt、Ann M. Moyer、Debbie M. Figueroa、Michelle Whirl‐Carrillo、Andrea Gaedigk、Gabriele Stocco、Matthias Schwab、Kelly E. Caudle、Jun J. Yang
单位：Department of Pharmacy and Pharmaceutical Sciences, St Jude Children's Research Hospital, Memphis, Tennessee, USA.；Oncopole-Claudius Regaud, CRCT, University of Toulouse, Toulouse, France.；Agena Bioscience, San Diego, California, USA.；Department of Clinical Pharmacology, School of Medicine, Indiana University, Indianapolis, Indiana, USA.；Department of Laboratory Medicine and Pathology, Mayo Clinic, Rochester, Minnesota, USA.；Department of Internal Medicine, University of South Dakota School of Medicine, Vermillion, South Dakota, USA.；Sanford Medical Genetics Laboratory, Sioux Falls, South Dakota, USA.；Department of Biomedical Data Science, Stanford University, Stanford, California, USA.
摘要
临床药理学与治疗学期刊于2026年8月6日在线发表临床药物基因组学实施联盟（CPIC）药物基因 curation 专家小组对TPMT和NUDT15等位基因进行临床功能分级的结果。该研究基于现有证据，将等位基因分为功能正常、功能降低或无功能等类别，旨在指导硫嘌呤类药物（如硫唑嘌呤、6-巯基嘌呤）的个体化用药。该分级将更新CPIC指南，影响临床基因检测结果的解读和用药决策。
AI 主编 · 推荐理由推荐理由
TPMT和NUDT15基因型是硫嘌呤类药物剂量调整的关键依据，新分级将直接影响临床用药决策和基因检测报告解读。药企需据此更新药品说明书和伴随诊断策略，建议注册和医学事务部门及时跟进。