Division of Colon and Rectal Surgery, Department of Surgery, University of California San Diego, 4303 La Jolla Village Drive Suite 2110, San Diego, CA, 92122, USA.
Division of Surgical Oncology, Department of Surgery, University of North Carolina, 170 Manning Drive, CB#7213, 1150 Physician's Office Building, Chapel Hill, NC, 27599-7213, USA.
Cancer Treat Res. 2024;192:305-418. doi: 10.1007/978-3-031-61238-1_15.
Advances in molecular genetics have revolutionized our understanding of the pathogenesis, progression, and therapeutic options for treating gastrointestinal (GI) cancers. This chapter provides a comprehensive overview of the molecular landscape of GI cancers, focusing on key genetic alterations implicated in tumorigenesis across various anatomical sites including GIST, colon and rectum, and pancreas. Emphasis is placed on critical oncogenic pathways, such as mutations in tumor suppressor genes, oncogenes, chromosomal instability, microsatellite instability, and epigenetic modifications. The role of molecular biomarkers in predicting prognosis, guiding treatment decisions, and monitoring therapeutic response is discussed, highlighting the integration of genomic profiling into clinical practice. Finally, we address the evolving landscape of precision oncology in GI cancers, considering targeted therapies and immunotherapies.
分子遗传学的进展彻底改变了我们对胃肠道（GI）癌症的发病机制、进展和治疗选择的理解。本章全面概述了 GI 癌症的分子图谱，重点介绍了涉及不同解剖部位肿瘤发生的关键遗传改变，包括 GIST、结肠和直肠以及胰腺。强调了关键的致癌途径，如肿瘤抑制基因、癌基因、染色体不稳定性、微卫星不稳定性和表观遗传修饰的突变。讨论了分子生物标志物在预测预后、指导治疗决策和监测治疗反应中的作用，强调了将基因组分析整合到临床实践中的重要性。最后，我们探讨了 GI 癌症精准肿瘤学的不断发展，考虑了靶向治疗和免疫疗法。
