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错配修复缺陷型结直肠癌的肿瘤学特征、治疗方法及预后结果

Oncological characteristics, treatments and prognostic outcomes in MMR-deficient colorectal cancer.

作者信息

Fan Wen-Xuan, Su Fei, Zhang Yan, Zhang Xiao-Ling, Du Yun-Yi, Gao Yang-Jun, Li Wei-Ling, Hu Wen-Qing, Zhao Jun

机构信息

Graduate School of Shanxi Medical University, Taiyuan, Shanxi, 030607, China.

Department of Oncology, Changzhi People's Hospital Affiliated to Changzhi Medical College, Changzhi, Shanxi, 046000, China.

出版信息

Biomark Res. 2024 Aug 26;12(1):89. doi: 10.1186/s40364-024-00640-7.

Abstract

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.

摘要

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)或微卫星高度不稳定(MSI-H)为特征的CRC分子亚型在确定合适的治疗策略中起着关键作用。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。尽管在理解这些遗传背景方面取得了进展,但临床试验尚未明确区分这些亚组中免疫检查点抑制剂的疗效。因此,虽然本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进行更精细的临床研究以确定每种亚型的定制治疗策略的必要性。此外,本综述总结了已完成和正在进行的临床研究,强调了开发与分子谱更紧密匹配的治疗方法的重要性。通过讨论这些方面,本综述旨在对肿瘤学特征进行全面分析,详细阐述它们对dMMR/MSI-H CRC治疗和预后的影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/112c/11346251/feeb0e9a9a1d/40364_2024_640_Fig1_HTML.jpg

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