肝内胆管细胞癌诊治的分子生物学进展

Molecular diagnosis of intrahepatic cholangiocarcinoma

肝内胆管癌是起源于胆管上皮细胞的恶性肿瘤。由于肝脏相关的肿瘤均可引起肝脏的损伤，因而在临床表现上往往相似，但是这些肿瘤在病理学、形态学、发展过程以及治疗方面都有着显著区别，因此利用现代分子生物学技术准确诊断肝内胆管癌是十分必要的。近年来关于肝内胆管癌的分子诊断有了很大的突破，发现IDH1／2、BAP1、ps3、KRAS、FGFR等都与肝内胆管癌有着显著的关系。不少生物分子都有希望作为胆管癌的潜在生物标志物。本文就近年来有关肝内胆管癌的分子诊断作一综述。

Intrahepatic cholangiocarcinomas （ICCA） are primary intrahepatic malignancies originating from biliary epithelia. While both hepatocellular cancer and ICCA can present as mass lesions within the liver, these cancers are distinct in their morphology, etiology, pathology, natural history and response to therapy. There is a need for accurate and sensitive molecular markers for the diagnosis of ICCA. Recent advances in elucidating molecular and genetic characteristics of ICCA offer the potential of molecular-based diagnosis of ICCA. Specific genetic mutations of IDH1/2, BAP1, p53, and KRAS, FGFR gene fusions and alterations in microRNA have all been described in ICCA. Although there are no accurate serum or biliary biomarkers currently available for diagnosis of ICCA, several potential candidates have been identified. Knowledge of specific genetic or molecular abnormalities offers potential for individualized approaches for the treatment of patients with ICCA in the future.