Department of Molecular Neuropathology, Beijing Neurosurgical Institute, Capital Medical University, Beijing 100070, China.
Department of Neurosurgery, Beijing Tiantan Hospital, Capital Medical University, Beijing 100070, China.
Chin Med J (Engl). 2022 Dec 20;135(24):2914-2925. doi: 10.1097/CM9.0000000000002446.
The prognosis for diffusely infiltrating gliomas at World Health Organization (WHO) grade 2-4 remains dismal due to their heterogeneity. The rapid development of genome-wide molecular-profiling-associated studies has greatly promoted the accuracy of glioma classification. Thus, the latest version of the WHO classification of the central nervous system tumors published in 2021 has incorporated more molecular biomarkers together with histological features for the diagnosis of gliomas. Advanced usage of molecular pathology in clinical diagnostic practice provides also new opportunities for the therapy of patients with glioma, including surgery, radiotherapy and chemotherapy, targeted therapy, immunotherapy, and more precision clinical trials. Herein, we highlight the updates in the classification of gliomas according to the latest WHO guidelines and summarize the clinically relevant molecular markers by focusing on their applications in clinical practice. We also review the advances in molecular features of gliomas, which can facilitate the development of glioma therapies, thereby discussing the challenges and future directions of molecular pathology toward precision medicine for patients with glioma.
由于弥漫性浸润性神经胶质瘤(glioma)具有异质性,世界卫生组织(World Health Organization,WHO)2-4 级弥漫性浸润性神经胶质瘤的预后仍然不容乐观。全基因组分子分析相关研究的快速发展极大地提高了神经胶质瘤分类的准确性。因此,2021 年发布的最新版《WHO 中枢神经系统肿瘤分类》将更多的分子生物标志物与组织学特征相结合,用于神经胶质瘤的诊断。分子病理学在临床诊断实践中的高级应用也为神经胶质瘤患者的治疗提供了新的机会,包括手术、放疗和化疗、靶向治疗、免疫治疗等,以及更多精准临床试验。在此,我们根据最新的 WHO 指南强调了神经胶质瘤分类的更新,并通过关注其在临床实践中的应用,总结了具有临床相关性的分子标志物。我们还回顾了神经胶质瘤分子特征的进展,这有助于神经胶质瘤治疗的发展,从而讨论了分子病理学向神经胶质瘤患者精准医学发展的挑战和未来方向。