结直肠癌发生的综合观点：分子发病机制、基因组改变、诊断范式、治疗干预和精准肿瘤学中的人工智能驱动方向
Integrated perspectives on colorectal carcinogenesis: molecular pathogenesis, genomic alterations, diagnostic paradigms, therapeutic interventions and AI-driven directions in precision oncology.
摘要(中文译文)
结直肠癌（CRC）仍是全球癌症相关发病率和死亡率的主要原因之一，且在年轻人群和发展中国家的发病率显著上升。本综述对结直肠癌的分子发病机制、流行病学、分类、诊断及治疗策略提供了综合性视角。我们强调三条主要分子通路——染色体不稳定（CIN）、微卫星不稳定（MSI）和CpG岛甲基化表型（CIMP）——的关键作用及其与肿瘤异质性和临床结局的关联。分析重点阐述了包括生活方式相关因素和遗传易感性在内的关键危险因素，以及影响预后和治疗决策的新兴分子亚型。非侵入性诊断的进展，如粪便免疫化学检测（FIT）和新型生物标志物的发现，显示出改善早期检测和筛查依从性的潜力。预防策略包括生活方式干预、化学预防和维生素D补充，结合包括单克隆抗体和靶向治疗在内的个体化治疗干预，为减轻疾病负担提供了有前景的途径。本综述还探讨了多组学整合和人工智能驱动分析的最新进展，这些进展已改变了结直肠癌的生物标志物发现、亚型分类和治疗预测。机器学习（ML）、放射基因组学和量子计算的新兴应用进一步凸显了向精准肿瘤学转变的范式。本综述强调需要整合分子谱分析、患者分层和个体化治疗的精准肿瘤学方法，以提升结直肠癌的医疗服务水平和临床结局。
Abstract
Colorectal cancer (CRC) remains a leading cause of cancer-related morbidity and mortality worldwide, with a notable rise in incidence among younger populations and in developing nations. This review provides an integrative perspective on the molecular pathogenesis, epidemiology, classification, diagnosis, and therapeutic strategies in CRC. We emphasize the pivotal role of three major molecular pathways - chromosomal instability (CIN), microsatellite instability (MSI), and CpG island methylator phenotype (CIMP) and their association with tumor heterogeneity and clinical outcomes. The analysis highlights key risk factors including lifestyle-related variables and genetic predisposition, alongside emerging molecular subtypes that influence prognosis and therapeutic decision-making. Advances in non-invasive diagnostics, such as fecal immunochemical testing (FIT) and novel biomarker discovery, demonstrate potential for improving early detection and screening compliance. Preventive strategies encompassing lifestyle modification, chemoprevention, and vitamin D supplementation, coupled with tailored therapeutic interventions including monoclonal antibodies and targeted therapies, offer promising avenues for reducing disease burden. The review also explores recent advances in multi-omics integration and artificial intelligence driven analytics, which have transformed biomarker discovery, subtype classification, and therapeutic prediction in CRC. Emerging applications of machine learning (ML), radiogenomics, and quantum computing further highlight a paradigm shift toward precision oncology. This review underscores the need for precision oncology approaches that integrate molecular profiling, patient stratification, and personalized treatment to enhance health care delivery and clinical outcomes in CRC.
如何引用
AMA
Sidharth Kumar N, Sai Kiruthiga S, Magesh Ramasamy. Integrated perspectives on colorectal carcinogenesis: molecular pathogenesis, genomic alterations, diagnostic paradigms, therapeutic interventions and AI-driven directions in precision oncology.. Frontiers in oncology. 2026; doi:10.3389/fonc.2026.1770430.
APA
Sidharth Kumar N, Sai Kiruthiga S, Magesh Ramasamy (2026). Integrated perspectives on colorectal carcinogenesis: molecular pathogenesis, genomic alterations, diagnostic paradigms, therapeutic interventions and AI-driven directions in precision oncology.. Frontiers in oncology. https://doi.org/10.3389/fonc.2026.1770430
GB/T 7714
Sidharth Kumar N, Sai Kiruthiga S, Magesh Ramasamy. Integrated perspectives on colorectal carcinogenesis: molecular pathogenesis, genomic alterations, diagnostic paradigms, therapeutic interventions and AI-driven directions in precision oncology.[J]. Frontiers in oncology, 2026 doi:10.3389/fonc.2026.1770430.
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