旨在阐明具有 B-Raf 原癌基因、丝氨酸/苏氨酸激酶 (BRAF) 突变的儿童胶质细胞和胶质神经元肿瘤中 DNA 甲基化谱 (DMP) 与病理诊断 (PD) 之间的关系，解决其诊断挑战。这项回顾性研究进行沙特阿拉伯的研究人员使用扫描图像、下一代测序数据以及使用海德堡甲基化脑肿瘤分类器 v12.5 和 v12.8 处理的甲基化图谱分析了儿童脑肿瘤网络在线数据库中的 47 个病例。数据的最后访问日期为 2023 年 11 月 10 日。在毛细胞星形细胞瘤和神经节胶质瘤中观察到 BRAF 突变的患病率最高。 23 例 DMP 与 PD 一致，但其他病例出现差异，包括弥漫性软脑膜胶质神经元肿瘤和青少年多形性低级别神经上皮肿瘤的诊断变化。毛细胞星形细胞瘤 MC 和胶质神经元肿瘤 PD 之间出现了一个关键的不一致之处。两个高级别星形细胞瘤被错误分类为多形性黄色星形细胞瘤。此外，神经节胶质瘤中的低变异等位基因频率可能导致 5 例病例被错误分类为对照。本研究强调了将 DMP 与 PD 相结合在诊断具有 BRAF 突变的儿童胶质细胞和神经胶质细胞肿瘤中的重要性。尽管 DMP 提供了重要的诊断见解，但其局限性，特别是在肿瘤含量较低的情况下，需要谨慎解释，并将其用作补充诊断工具，而不是确定的方法。版权所有：© Neurosciences。

To elucidate the relationship between DNA methylation profiling (DMP) and pathological diagnosis (PD) in pediatric glial and glioneuronal tumors with B-Raf proto-oncogene, serine/threonine kinase (BRAF) mutations, addressing their diagnostic challenges.This retrospective study, conducted in Saudi Arabia, analyzed 47 cases from the Children's Brain Tumor Network online database using scanned images, next-generation sequencing data, and methylation profiles processed using the Heidelberg methylation brain tumor classifiers v12.5 and v12.8. The data was last access on 10 November 2023.The highest prevalence of BRAF mutations was observed in pilocytic astrocytoma and ganglioglioma. The DMP was consistent with PD in 23 cases, but discrepancies emerged in others, including diagnostic changes in diffuse leptomeningeal glioneuronal tumor and polymorphous low-grade neuroepithelial tumor of the young. A key inconsistency appeared between a pilocytic astrocytoma MC and a glioneuronal tumor PD. Two high-grade astrocytomas were misclassified as pleomorphic xanthoastrocytomas. Additionally, low variant allelic frequency in gangliogliomas likely contributed to misclassifications as control in 5 cases.This study emphasized the importance of integrating DMP with PD in diagnosing pediatric glial and glioneuronal tumors with BRAF mutations. Although DMP offers significant diagnostic insights, its limitations, particularly in cases with low tumor content, necessitate cautious interpretation, as well as its use as a complementary diagnostic tool, rather than a definitive method.Copyright: © Neurosciences.