Cholangiocarcinoma (CCA) is the most common malignancy in patients with primary sclerosing cholangitis (PSC), accounting for 2–8% of cases and being the leading cause of death in these patients. The majority of PSC-associated CCAs (PSC-CCA) develop within the first few years after PSC diagnosis. Older age and male sex, as well as concomitant inflammatory bowel disease (IBD) or high-grade biliary stenosis, are some of the most relevant risk factors. A complex combination of molecular mechanisms involving inflammatory pathways, direct cytopathic damage, and epigenetic and genetic alterations are involved in cholangiocytes carcinogenesis. The insidious clinical presentation makes early detection difficult, and the integration of biochemical, radiological, and histological features does not always lead to a definitive diagnosis of PSC-CCA. Surveillance is mandatory, but current guideline strategies failed to improve early detection and consequently a higher patient survival rate. MicroRNAs (miRNAs), gene methylation, proteomic and metabolomic profile, and extracellular vesicle components are some of the novel biomarkers recently applied in PSC-CCA detection with promising results. The integration of these new molecular approaches in PSC diagnosis and monitoring could contribute to new diagnostic and surveillance strategies.
胆管癌（CCA）是原发性硬化性胆管炎（PSC）患者中最常见的恶性肿瘤，约占病例的2-8%，是此类患者的主要死亡原因。大多数PSC相关胆管癌（PSC-CCA）在PSC诊断后的最初几年内发生。高龄、男性、合并炎症性肠病（IBD）或高级别胆管狭窄是最相关的危险因素。胆管上皮细胞的癌变涉及炎症通路、直接细胞毒性损伤以及表观遗传和遗传改变等多种分子机制的复杂相互作用。其临床表现隐匿，早期检测困难，且生化、影像学和组织学特征的综合分析并不总能确诊PSC-CCA。定期监测是必要的，但目前的指南策略未能提高早期检出率，从而未能改善患者生存率。微小RNA（miRNA）、基因甲基化、蛋白质组学和代谢组学特征以及细胞外囊泡成分等新型生物标志物近期已应用于PSC-CCA检测，并显示出良好前景。将这些新的分子方法整合到PSC的诊断和监测中，可能有助于形成新的诊断和监测策略。
肿瘤(癌症)患者之家