Favorable response to immunotherapy in a pancreatic neuroendocrine tumor with temozolomide-induced high tumor mutational burden
作者机构：Department of Gastrointestinal OncologyKey Laboratory of Carcinogenesis and Translational Research(Ministry of Education/Beijing)Peking University Cancer Hospital&InstituteBeijing 100142P.R.China Translational Medicine Research InstituteGeneseeq Technology Inc.Toronto M5T1K5Canada Department of Nuclear MedicinePeking University Cancer Hospital&InstituteKey Laboratory of Carcinogenesis and Translational Research(Ministry of Education/Beijing)Beijing 100142P.R.China Department of PathologyKey Laboratory of Carcinogenesis and Translational Research(Ministry of Education/Beijing)Peking University Cancer Hospital&InstituteBeijing 100142P.R.China Nanjing Geneseeq Technology Inc.NanjingJiangsu 210032P.R.China School of Public HealthNanjing Medical UniversityNanjingJiangsu 210029P.R.China Department of Early Drug Development CenterPeking University Cancer Hospital&InstituteKey Laboratory of Carcinogenesis and Translational Research(Ministry of Education/Beijing)Beijing 100142P.R.China
出 版 物：《Cancer Communications》 (癌症通讯（英文）)
年 卷 期：2020年第40卷第12期
页 面：746-751页
核心收录：
学科分类：1002[医学-临床医学] 100214[医学-肿瘤学] 10[医学]
基 金：National Key Research and Development Program of China [2017YFC0908404]
主 题：gene expression profiling mutational signature neuroendocrine tumors programmed cell death 1 receptor temozolomide tumor mutational burden
摘 要：Neuroendocrine neoplasm of the pancreas is a rare tumor with limited treatment *** such tumors,treatment for pancreatic neuroendocrine tumor(PanNET)G3 is the most ***(TMZ)is commonly used to treat ***,TMZ may cause tumor gene alkylation,which induces drug resistance and rapid disease ***,we present a case of a female who was diagnosed with PanNET G3 and achieved a partial response to toripalimab,an anti-programmed cell death-ligand 1(anti-PD-L1)monoclonal antibody,after multiple cycles of TMZ *** profiling revealed that compared with the patient’s samples collected at baseline,the postTMZ-treatment samples had markedly higher levels of tumor mutational burden(TMB)associated with characteristic alkylating mutational signature representing a positive correlation with favorable response to anti-PD-1 *** addition,we observed a germline truncating mutation of MUTYH(W156*)that was considered to be pathogenic and potentially conferred to genomic *** case suggests that anti-PD-1 therapy could be a treatment option for PanNET patients with increased TMB after TMZ-based treatment.
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