结直肠癌 (CRC) 是全球第三大常见癌症。人们认识到，以错配修复缺陷 (dMMR) 或微卫星不稳定性高 (MSI-H) 为特征的 CRC 分子亚型在确定适当的治疗策略中发挥着关键作用。本综述探讨了当前的分子分类，重点关注 dMMR/MSI-H CRC 及其亚型：林奇综合征 (LS)、林奇样综合征 (LLS) 和散发病例。尽管对这些遗传背景的了解取得了进展，但临床试验尚未最终区分这些亚组中免疫检查点抑制剂的功效。因此，虽然这篇综述详细介绍了分子特征及其对治疗和预后的一般影响，但它也强调了局限性以及需要进行更精细的临床研究，以确定针对每种亚型的定制治疗策略。此外，这篇综述总结了已完成和正在进行的临床研究，强调开发与分子特征更紧密结合的治疗方法的重要性。通过讨论这些方面，该综述旨在对肿瘤学特征进行全面分析，详细了解其对 dMMR/MSI-H CRC 治疗和预后的影响。© 2024。作者。

Colorectal cancer (CRC) ranks as the third most prevalent cancer globally. It's recognized that the molecular subtype of CRC, characterized by mismatch repair deficiency (dMMR) or microsatellite instability-high (MSI-H), plays a critical role in determining appropriate treatment strategies. This review examines the current molecular classifications, focusing on dMMR/MSI-H CRC and its subtypes: Lynch syndrome (LS), Lynch-like syndrome (LLS), and sporadic cases. Despite advances in understanding of these genetic backgrounds, clinical trials have not conclusively differentiated the efficacy of immune checkpoint inhibitors among these subgroups. Therefore, while this review details the molecular characteristics and their general implications for treatment and prognosis, it also highlights the limitations and the need for more refined clinical studies to ascertain tailored therapeutic strategies for each subtype. Furthermore, this review summarizes completed and ongoing clinical studies, emphasizing the importance of developing treatments aligned more closely with molecular profiles. By discussing these aspects, the review seeks to provide a comprehensive analysis of oncological characteristics, presenting a detailed understanding of their implications for treatment and prognosis in dMMR/MSI-H CRC.© 2024. The Author(s).