Bray Alexander, Sahai Vaibhav
Division of Hematology and Oncology, Department of Internal Medicine, University of Michigan, Ann Arbor, MI 48109, USA.
Curr Oncol. 2025 Jan 17;32(1):44. doi: 10.3390/curroncol32010044.
Mutations in isocitrate dehydrogenase (IDH) genes are among the most frequently encountered molecular alterations in cholangiocarcinoma (CCA). These neomorphic point mutations endow mutant IDH (mIDH) with the ability to generate an R-enantiomer of 2-hydroxyglutarate (R2HG), a metabolite that drives malignant transformation through aberrant epigenetic signaling. As a result, pharmacologic inhibition of mIDH has become an attractive therapeutic strategy in CCAs harboring this mutation. One such inhibitor, ivosidenib, has already undergone clinical validation and received FDA approval in this disease, but there is still much work to be done to improve outcomes in mIDH CCA patients. In this publication we will review the pathogenesis and treatment of mIDH CCA with special emphasis on novel agents and combinations currently under investigation.
异柠檬酸脱氢酶(IDH)基因突变是胆管癌(CCA)中最常见的分子改变之一。这些新形态点突变赋予突变型IDH(mIDH)生成R-2-羟基戊二酸(R2HG)的能力,R2HG是一种通过异常表观遗传信号传导驱动恶性转化的代谢物。因此,对mIDH的药理抑制已成为具有这种突变的CCA中一种有吸引力的治疗策略。一种这样的抑制剂艾伏尼布已经过临床验证并获得了FDA在该疾病中的批准,但要改善mIDH CCA患者的预后仍有许多工作要做。在本出版物中,我们将回顾mIDH CCA的发病机制和治疗方法,特别强调目前正在研究的新型药物和联合用药。