The European Society for Medical Oncology (ESMO) Precision Medicine Glossary


Annals of Oncology, mdx707,
https://doi.org/10.1093/annonc/mdx707
Published: 13 November 2017
为方便精准医学时代的学术交流,ESMO Translational Research and Personalised Medicine Working Group(欧洲肿瘤内科学会,转化研究与个体化医学工作组)汇编了精准医学术语,共43个,分为5大类:1)决策机制,Precision medicine (preferred term)/personalised medicine,精准医学或个体化医学,使用精准医学更佳;Pharmacogenomics,药物基因组学;Stratified medicine,分层医学;Molecular tumour board,分子肿瘤委员会;2)分子改变特征,Mutation/genomic mutation,突变/基因组突变;Cancer gene,癌基因,可分为促癌基因oncogenes和抑癌基因tumour suppressor genes;Driver mutation,驱动基因突变;Passenger mutation,乘客基因突变;Oncogene addiction,癌基因成瘾;Pathogenic variant,致病变异;Deleterious variant,有害变异;Targetable genomic alteration/druggable genomic alteration,可靶向的基因组改变/可药物治疗的基因组改变;Actionable genomic alteration,可干预的基因组改变,包括可直接靶向的Targetable genomic alteration以及虽然不可直接靶向,但可通过作用其下调的通路实现针对性干预的改变;Point mutation,点突变;Insertion/deletion mutations,插入/缺失突变;Structural variant (preferred)/genomic rearrangement,结构变异/基因组重排,结构变异术语更佳;Copy number variation (germline),拷贝数变异(种,遗传的);拷贝数变异(体,后天获得的); Gene amplification,基因扩增;Copy number gain,拷贝数增加;Homozygous deletion,纯合缺失。3)肿瘤特征,Intra-tumour heterogeneity,肿瘤内异质性;Inter-tumour heterogeneity,肿瘤间异质性;Clonal evolution,克隆进化;Cancer clone,癌症克隆;Cancer sub-clone,癌症亚克隆;Circulating tumour cells,循环肿瘤细胞;Cell free circulating tumour DNA,游离于细胞外的循环肿瘤DNA;Extracellular vesicles,细胞外囊泡。4)临床研究与统计,Basket trial,篮子试验;Umbrella trial,伞试验;Adaptive trial,适应性试验;N-of-one trial,单病例随机对照试验;Spider plot,蜘蛛图;Circos plot,圈圈图;Waterfall plot,瀑布图。5)新的研究工具,Liquid biopsy,液体活检;Patient-derived xenograft models,患者来源的异种移植模型;Orthotopic animal models,原位动物模型;Humanised animal mode,人源化动物模型;Tumouroids (tumour organoids),类肿瘤(肿瘤类器官);Primary cultures,原代培养;Organotypic cultures,器官培养;Syngenic animal models,同系动物模型。