(1) Background and Aims: Patients with inflammatory bowel disease (IBD) and primary sclerosing cholangitis (PSC) face a significantly increased risk of malignancies, including a 10-fold higher risk for colorectal cancer (CRC) and a lifetime risk for cholangiocarcinoma (CCA) exceeding 20%. The mechanisms underlying this elevated risk remain elusive. This review consolidates recent findings on cancer risk in PSC-IBD patients, focusing on molecular pathways, diagnostic innovations, and prevention strategies. (2) Methods: A comprehensive PubMed search was performed to identify studies published through to March 2025 on oncogenic processes, molecular mechanisms, and advancements in diagnostic and preventive strategies for CRC and CCA in PSC-IBD patients. (3) Results: Surveillance guidelines recommend an annual colonoscopy for CRC and imaging combined with CA 19-9 monitoring for CCA. Recent studies highlight the role of molecular alterations, including epigenetic modifications, in tumorigenesis. Advances in molecular diagnostics, imaging, and endoscopic technologies are improving the accuracy and timeliness of cancer detection. (4) Conclusions: PSC-IBD patients remain at high risk for CRC and CCA, emphasizing the need for vigilant surveillance and advanced prevention strategies. Advances in early detection and precision diagnostics offer new opportunities to reduce the cancer burden in this high-risk population.
(1) 背景与目的：炎症性肠病合并原发性硬化性胆管炎患者面临显著增加的恶性肿瘤风险，其中结直肠癌发病风险升高10倍，胆管癌终生患病风险超过20%。其风险升高的机制尚未明确。本综述整合了近期关于PSC-IBD患者癌症风险的研究进展，重点关注分子通路、诊断创新及预防策略。(2) 方法：通过系统检索截至2025年3月的PubMed数据库，纳入关于PSC-IBD患者结直肠癌与胆管癌致癌过程、分子机制及诊疗预防策略进展的相关研究。(3) 结果：现行监测指南建议每年进行结肠镜结直肠癌筛查，并通过影像学检查联合CA 19-9监测胆管癌。最新研究揭示了表观遗传修饰等分子改变在肿瘤发生中的作用。分子诊断、影像学及内镜技术的进步正持续提升癌症检测的准确性与时效性。(4) 结论：PSC-IBD患者仍是结直肠癌与胆管癌的高危群体，亟需强化监测体系并发展先进预防策略。早期检测与精准诊断技术的进步为降低该高危人群的癌症负担提供了新契机。
Navigating Neoplasm Risk in Inflammatory Bowel Disease and Primary Sclerosing Cholangitis
肿瘤(癌症)患者之家