Cholangiocarcinoma (CCA) is a rare malignancy originating from the biliary tree and is anatomically categorized as intrahepatic (iCCA), perihilar, and extrahepatic or distal. iCCA, the second most prevalent hepatobiliary cancer following hepatocellular carcinoma (HCC), constitutes 5–20 % of all liver malignancies, with an increasing incidence. The challenging nature of iCCA, combined with nonspecific symptoms, often leads to late diagnoses, resulting in unfavorable outcomes. The advanced phase of this neoplasm is difficult to treat with dismal results. Early diagnosis could significantly reduce mortality attributed to iCCA but remains an elusive goal. The identification of biomarkers specific to iCCA and their translation into clinical practice could facilitate diagnosis, monitor therapy response, and potentially reveal novel interventions and personalized medicine. In this review, we present the current landscape of biomarkers in each of these contexts. In addition to CA19.9, a widely recognized biomarker for iCCA, others such as A1BG, CYFRA 21–1, FAM19A5, MMP-7, RBAK, SSP411, TuM2-PK, WFA, etc., as well as circulating tumor DNA, RNA, cells, and exosomes, are under investigation. Advancing our knowledge and monitoring of biomarkers may enable us to improve diagnosis, prognostication, and apply treatments dynamically and in a more personalized manner.

胆管癌 (CCA) 是一种起源于胆管系统的罕见恶性肿瘤，在解剖学上分为肝内 (iCCA)、肝门周围和肝外或远端。iCCA 是继肝细胞癌 (HCC) 之后第二常见的肝胆癌，占所有肝脏恶性肿瘤的 5-20%，且发病率不断增加。iCCA 的挑战性本质加上非特异性症状，常常导致诊断延迟，从而导致不利的结果。这种肿瘤的晚期阶段很难治疗，结果令人沮丧。早期诊断可以显着降低 iCCA 的死亡率，但仍然是一个难以实现的目标。iCCA 特异性生物标志物的鉴定及其转化为临床实践可以促进诊断、监测治疗反应，并有可能揭示新的干预措施和个性化医疗。在这篇综述中，我们介绍了这些背景下生物标志物的当前状况。除了广泛认可的iCCA生物标志物CA19.9外，其他如A1BG、CYFRA 21-1、FAM19A5、MMP-7、RBAK、SSP411、TuM2-PK、WFA等，以及循环肿瘤DNA， RNA、细胞和外泌体正在研究中。提高我们对生物标志物的认识和监测可能使我们能够改善诊断、预测并以更加个性化的方式动态地应用治疗。