Department of Oncology, Istituto Superiore Di Sanità, Rome, Italy.
Expert Rev Anticancer Ther. 2023 Feb;23(2):147-162. doi: 10.1080/14737140.2023.2170878. Epub 2023 Jan 30.
Cholangiocarcinomas (CCAs) are a heterogenous group of epithelial malignancies originating at any level of the biliary tree and are subdivided according to their location into intrahepatic (iCCA) and extrahepatic (eCCA).
This review provides an updated analysis of studies of genetic characterization of CCA at the level of gene mutation profiling, copy number alterations and gene expression, with definition of molecular subgroups and identification of some molecular biomarkers and therapeutic targets.
With the development of genetic sequencing, several driver mutations have been identified and targeted as novel therapeutic approaches, including and . Furthermore, identification of the cellular and molecular structure of the tumor microenvironment has contributed to the development of novel therapies, such as tumor immunotherapy. Combination therapies of chemotherapy plus targeted molecules or immunotherapy are under evaluation and offer the unique opportunity to improve the outcomes of CCA patients with advanced disease.
胆管癌（CCA）是一组起源于胆道任何部位的上皮恶性肿瘤，根据其位置可分为肝内（iCCA）和肝外（eCCA）。
本综述提供了对胆管癌基因特征的研究的最新分析，包括基因突变谱、拷贝数改变和基因表达水平，定义了分子亚群，并确定了一些分子生物标志物和治疗靶点。
随着基因测序的发展，已经确定了一些驱动突变，并将其作为新的治疗方法进行靶向治疗，包括 和 。此外，肿瘤微环境的细胞和分子结构的鉴定也促进了新疗法的发展，如肿瘤免疫疗法。化疗加靶向分子或免疫疗法的联合治疗正在评估中，为晚期 CCA 患者提供了改善治疗效果的独特机会。
