Valvi Santosh, Fouladi Maryam, Fisher Michael J, Gottardo Nicholas G
Department of Pediatric and Adolescent Oncology and Hematology, Perth Children's Hospital, Perth, WA, Australia.
Brain Tumor Research Program, The Kids Research Institute Australia, Perth, WA, Australia.
Front Mol Neurosci. 2025 Aug 29;18:1662414. doi: 10.3389/fnmol.2025.1662414. eCollection 2025.
Gliomas are the most common type of malignant primary central nervous system (CNS) tumors, resulting in significant morbidity and mortality in children and adolescent and young adult (AYA) patients. The discovery of mutations in isocitrate dehydrogenase (IDH) genes has dramatically changed the classification and understanding of gliomas. IDH mutant gliomas have distinct clinical, pathological, and molecular features including a favorable prognosis and response to therapy compared to their wildtype counterparts. Although more common in adults, 5-15% of pediatric gliomas have IDH mutations. In this review, we provide a comprehensive summary of the current knowledge on IDH mutant high-grade gliomas (HGG), including their biology, clinical features, diagnosis, treatment, and prognosis. We also discuss future directions in research and clinical management with particular attention to the AYA cohort.
胶质瘤是原发性中枢神经系统(CNS)最常见的恶性肿瘤类型,在儿童、青少年和青年成人(AYA)患者中导致显著的发病率和死亡率。异柠檬酸脱氢酶(IDH)基因突变的发现极大地改变了对胶质瘤的分类和认识。与野生型胶质瘤相比,IDH突变型胶质瘤具有独特的临床、病理和分子特征,包括预后良好及对治疗有反应。虽然IDH突变在成人中更常见,但5%-15%的儿童胶质瘤存在IDH突变。在本综述中,我们全面总结了目前关于IDH突变型高级别胶质瘤(HGG)的知识,包括其生物学特性、临床特征、诊断、治疗和预后。我们还讨论了研究和临床管理的未来方向,特别关注AYA队列。