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

作者：Wenxuan Fan, Fei Su, Yan Zhang, Xiaoling Zhang, Yunyi Du, Yangjun Gao, Weiling Li, Wenqing Hu, Jun Zhao · 发表于：Biomarker Research · 年份：2024 · DOI：10.1186/s40364-024-00640-7 · 被引用次数：33 · 研究领域：Genetic factors in colorectal cancer、Colorectal Cancer Treatments and Studies、Cancer Immunotherapy and Biomarkers

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.