Department of Surgery, University of California San Francisco, San Francisco, CA 94143, USA.
Hackensack Meridian School of Medicine, Nutley, NJ 07110, USA.
Cells. 2024 Apr 14;13(8):679. doi: 10.3390/cells13080679.
Colorectal cancer is the second most common cause of cancer death in the United States, and up to half of patients develop colorectal liver metastases (CRLMs). Notably, somatic genetic mutations, such as mutations in , , mismatch repair (MMR) genes, , and , have been shown to play a prognostic role in patients with CRLM. This review summarizes and appraises the current literature regarding the most relevant somatic mutations in surgically treated CRLM by not only reviewing representative studies, but also providing recommendations for areas of future research. In addition, advancements in genetic testing and an increasing emphasis on precision medicine have led to a more nuanced understanding of these mutations; thus, more granular data for each mutation are reviewed when available. Importantly, such knowledge can pave the way for precision medicine with the ultimate goal of improving patient outcomes.
结直肠癌是美国第二大常见的癌症死因，多达一半的患者会发展为结直肠肝转移（CRLMs）。值得注意的是，体细胞基因突变，如 、 、错配修复（MMR）基因 、 和 中的突变，已被证明与 CRLM 患者的预后有关。这篇综述通过回顾有代表性的研究，不仅总结和评估了手术治疗 CRLM 中最相关的体细胞突变的现有文献，还为未来的研究领域提供了建议。此外，遗传检测的进步和对精准医学的日益重视，使人们对这些突变有了更细致的了解；因此，当有可用数据时，会对每种突变进行更详细的审查。重要的是，这些知识可以为精准医学铺平道路，最终目标是改善患者的预后。
