Daugan Clémentine, Boidot Romain, Ghiringhelli François, Borg Christophe, Vienot Angélique
Department of Medical Oncology, University Hospital of Besançon, Besancon, France.
Molecular Biology Unit, Department of Biology and Pathology of Tumors, Georges-François Leclerc Cancer Center, Dijon, France.
Ther Adv Med Oncol. 2024 Sep 13;16:17588359241271793. doi: 10.1177/17588359241271793. eCollection 2024.
Biliary tract cancer incidence is increasing and the prognostic remains dismal. The development of personalized medicine is a pivotal issue in proposing therapeutic options for biliary tract cancer patients. Whole exome sequencing identifies approximately 15% of mutations and 15% of fusions in intrahepatic cholangiocarcinoma. Other patients are not currently eligible for targeted therapy. Here, we present a patient treated for a metastatic cholangiocarcinoma with an unexpected response to a mammalian target of rapamycin (mTOR) targeting agent. Whole exome sequencing enabled the identification of and mutations. Reintroduction of mTOR inhibitors with similar results sustains the main role of these targeted agents in the control of the disease. These results suggest the existence of an mTOR oncogenic addiction in biliary tract cancer. Our results support the interest in performing exome sequencing in liver cancers and the potential to identify actionable mutations with important therapeutic issues.
胆道癌的发病率正在上升，其预后仍然很差。个性化医疗的发展是为胆道癌患者提供治疗方案的关键问题。全外显子组测序可识别出约15%的肝内胆管癌突变和15%的融合。其他患者目前不符合靶向治疗的条件。在此，我们报告了一名转移性胆管癌患者，其对雷帕霉素靶蛋白（mTOR）靶向药物产生了意外反应。全外显子组测序能够识别出[具体内容缺失]突变。再次使用mTOR抑制剂也产生了类似结果，这维持了这些靶向药物在疾病控制中的主要作用。这些结果表明胆道癌中存在mTOR致癌性依赖。我们的结果支持对肝癌进行外显子组测序的意义，以及识别具有重要治疗意义的可操作突变的潜力。
