微卫星不稳定性
DNA错配修复
林奇综合征
胃肠道
医学
疾病
免疫系统
癌症
癌症研究
生物信息学
内科学
生物
免疫学
结直肠癌
微卫星
遗传学
基因
等位基因
作者
Justin Mencel,A Alves,Vasileios Angelis,Marco Gerlinger,Naureen Starling
标识
DOI:10.1016/j.critrevonc.2024.104387
摘要
DNA mismatch repair (MMR) deficiency and the associated microsatellite instability (MSI) phenotype has become a subject of enormous interest in recent years due to the demonstrated efficacy of immune checkpoint inhibitors (ICI) in advanced tumours. Assessing MSI in patients with gastrointestinal tract (GI) cancers is useful to exclude Lynch syndrome, but also to predict benefit for ICI. Following review of the relevant literature, this review article aims to outline the clinicopathologic spectrum of MSI and mismatch repair deficiency (dMMR) in the GI tract, hepatobiliary system and pancreas and discuss the therapeutic consideration in this disease.
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