Ellis Haley, Braconi Chiara, Valle Juan W, Bardeesy Nabeel
Massachusetts General Hospital Cancer Center, Krantz Family Center for Cancer Research, Boston, Massachusetts; Harvard Medical School, Boston, Massachusetts.
School of Cancer Sciences, University of Glasgow, Glasgow, United Kingdom; Beatson West of Scotland Cancer Centre, Glasgow, United Kingdom.
Am J Pathol. 2025 Mar;195(3):437-452. doi: 10.1016/j.ajpath.2024.11.005. Epub 2024 Dec 19.
Cholangiocarcinoma is an aggressive bile duct malignancy with heterogeneous genomic features. Although most patients receive standard-of-care chemotherapy/immunotherapy, genomic changes that can be targeted with established or emerging therapeutics are common. Accordingly, precision medicine strategies are transforming the next-line treatment for patient subsets. Hotspot IDH1 mutations and activating fibroblast growth factor receptor 2 fusions occur frequently, and small-molecule inhibitors against these alterations are US Food and Drug Administration approved. Translational and basic science studies have elucidated the mechanisms of response and resistance in cholangiocarcinoma, providing insights into these targets that extend to other cancers. Additional US Food and Drug Administration-approved and National Comprehensive Cancer Network guideline-recommended treatments for recurrent genomic changes include BRAF inhibition (BRAF-V600E) and trastumazab deruxtecan (human epidermal growth factor receptor 2 amplification). Furthermore, ongoing clinical trials show promising results with KRAS inhibition (KRAS-codon 12 mutations), PRTM5 inhibition, alone or with methylthioadenosine inhibition (5-methylthioadenosine phosphorylase deletion), and murine double minute 2 inhibition (murine double minute 2 amplification). Despite these advances, the rate, depth, and duration of response to each treatment need improvement. Moreover, many patients do not have currently targetable genotypes. This review examines the clinical efficacy and mechanisms of resistance associated with these treatments, as well as insights into the molecular and biological effects of pathway activation and inhibition, based on study of patient samples and preclinical models. It also explores strategies to overcome resistance and possible precision medicine approaches for additional patient subsets.
胆管癌是一种具有异质性基因组特征的侵袭性胆管恶性肿瘤。尽管大多数患者接受标准治疗的化疗/免疫疗法,但可通过已确立或新兴疗法靶向的基因组改变很常见。因此,精准医学策略正在改变部分患者的二线治疗。热点异柠檬酸脱氢酶1(IDH1)突变和激活型成纤维细胞生长因子受体2(FGFR2)融合频繁出现,针对这些改变的小分子抑制剂已获美国食品药品监督管理局(US Food and Drug Administration)批准。转化医学和基础科学研究已经阐明了胆管癌的反应和耐药机制,为这些靶点提供了延伸至其他癌症的见解。美国食品药品监督管理局批准的以及美国国立综合癌症网络(National Comprehensive Cancer Network)指南推荐的针对复发性基因组改变的其他治疗方法包括BRAF抑制(BRAF-V600E)和曲妥珠单抗德鲁替康(人表皮生长因子受体2扩增)。此外,正在进行的临床试验显示,KRAS抑制(KRAS密码子12突变)、PRTM5抑制(单独或与甲硫腺苷抑制联合,5-甲硫腺苷磷酸化酶缺失)以及鼠双微体2抑制(鼠双微体2扩增)取得了有前景的结果。尽管有这些进展,但每种治疗的反应率、深度和持续时间仍需改善。此外,许多患者目前没有可靶向的基因型。本综述基于对患者样本和临床前模型的研究,探讨了与这些治疗相关的临床疗效和耐药机制,以及对通路激活和抑制的分子和生物学效应的见解。它还探讨了克服耐药的策略以及针对其他患者亚群可能的精准医学方法。