高级别胶质瘤（HGG）是儿童癌症死亡的最常见原因，也是成人最常见的原发性中枢神经系统（CNS）肿瘤。虽然儿科 HGG 曾被认为在生物学上与成人疾病相似，但研究表明这些恶性肿瘤在分子上具有显着差异，因此需要采用不同的临床治疗方法。然而，新出现的数据显示儿童和成人 HGG 存在共同的分子事件，包括组蛋白 H3K27M 突变。这种体细胞错义突变发生在编码组蛋白 H3 蛋白两种异构体 H3F3A (H3.3) 或 HIST1H3B (H3.1) 之一的基因中，在高达 80% 的儿童弥漫性中线神经胶质瘤和高达 60% 的儿童弥漫性中线神经胶质瘤中检测到。成人弥漫性神经胶质瘤的百分比。重要的是，与 H3 野生型肿瘤患者相比，H3K27M 突变与较差的总体生存率和治疗反应相关。在这里，我们回顾了儿童和成人 H3K27M 突变神经胶质瘤的临床特征和生物学基础，为了解当前研究和治疗患有这种挑战性疾病的患者的临床方法奠定了基础。© 作者 2023。由牛津出版大学出版社代表神经肿瘤学会。

High-grade glioma (HGG) is the most common cause of cancer death in children, and the most common primary central nervous system (CNS) tumor in adults. While pediatric HGG was once thought to be biologically similar to the adult form of disease, research has shown these malignancies to be significantly molecularly distinct, necessitating distinct approaches to their clinical management. However, emerging data have shown shared molecular events in pediatric and adult HGG including the histone H3K27M mutation. This somatic missense mutation occurs in genes encoding one of two isoforms of the Histone H3 protein, H3F3A (H3.3) or HIST1H3B (H3.1), and is detected in up to 80% of pediatric diffuse midline gliomas and in up to 60% of adult diffuse gliomas. Importantly, the H3K27M mutation is associated with poorer overall survival and response to therapy compared to patients with H3 wild-type tumors. Here, we review the clinical features and biological underpinnings of pediatric and adult H3K27M mutant glioma, offering a groundwork for understanding current research and clinical approaches for the care of patients suffering with this challenging disease.© The Author(s) 2023. Published by Oxford University Press on behalf of the Society for Neuro-Oncology.