Cell Biology and Biotherapy Unit, Istituto Nazionale Tumori-IRCCS-Fondazione G. Pascale-IRCCS, Naples, Italy.
Medical Oncology, Department of Precision Medicine, Università della Campania 'L. Vanvitelli', Naples, Italy.
ESMO Open. 2022 Jun;7(3):100505. doi: 10.1016/j.esmoop.2022.100505. Epub 2022 Jun 10.
The incidence of cholangiocarcinoma (CCA) has steadily increased during the past 20 years, and mortality is increasing. The majority of patients with CCA have advanced or metastatic disease at diagnosis, and treatment options for unresectable disease are limited, resulting in poor prognosis. However, recent identification of targetable genomic alterations has expanded treatment options for eligible patients. Given the importance of early and accurate diagnosis in optimizing patient outcomes, this review discusses best practices in CCA diagnosis, with a focus on categorizing molecular genetics and available targeted therapies. Imaging and staging of CCAs are discussed, as well as recommended biopsy collection techniques, and molecular and genomic profiling methodologies, which have become increasingly important as molecular biomarker data accumulate. Approved agents targeting actionable genomic alterations specifically in patients with CCA include ivosidenib for tumors harboring IDH1 mutations, and infigratinib and pemigatinib for those with FGFR2 fusions. Other agents currently under development in this indication have shown promising results, which are presented here.
在过去的 20 年中，胆管癌 (CCA) 的发病率稳步上升，死亡率也在上升。大多数 CCA 患者在诊断时已处于晚期或转移阶段，且不可切除疾病的治疗选择有限，导致预后不良。然而，最近发现的可靶向基因组改变为符合条件的患者扩大了治疗选择。鉴于早期和准确诊断对优化患者结局的重要性，本文讨论了 CCA 诊断的最佳实践，重点是对分子遗传学和可用的靶向治疗进行分类。还讨论了 CCAs 的成像和分期，以及推荐的活检采集技术，以及分子和基因组分析方法，随着分子生物标志物数据的积累，这些方法变得越来越重要。针对 CCA 患者特定可操作基因组改变的获批药物包括针对携带 IDH1 突变的肿瘤的ivosidenib，以及针对 FGFR2 融合的 infigratinib 和 pemigatinib。该适应证中目前正在开发的其他药物也显示出了有前景的结果，本文也对此进行了介绍。
