Department of Neurological Surgery, Okayama University Graduate School of Medicine, Dentistry, and Pharmaceutical Sciences, 2-5-1 Shikata-Cho, Kita-Ku, Okayama, 700-8558, Japan.
Department of Pathology, Kyorin University School of Medicine, 6-20-2 Shinkawa, Mitaka-Shi, Tokyo, 181-8611, Japan.
Brain Tumor Pathol. 2023 Apr;40(2):56-65. doi: 10.1007/s10014-023-00457-6. Epub 2023 Apr 1.
Despite the current progress of treatment, pediatric-type diffuse glioma is one of the most lethal primary malignant tumors in the central nervous system (CNS). Since pediatric-type CNS tumors are rare disease entities and highly heterogeneous, the diagnosis is challenging. An accurate diagnosis is essential for the choice of optimal treatment, which leads to precision oncology and improvement of the patient's outcome. Genome-wide DNA methylation profiling recently emerged as one of the most important tools for the diagnosis of CNS tumors, and the utility of this novel assay has been reported in both pediatric and adult patients. In the current World Health Organization classification published in 2021, several new entities are recognized in pediatric-type diffuse gliomas, some of which require methylation profiling. In this review, we investigated the utility of genome-wide DNA methylation profiling in pediatric-type diffuse glioma, as well as issues in the clinical application of this assay. Furthermore, the combination of genome-wide DNA methylation profiling and other comprehensive genomic assays, which may improve diagnostic accuracy and detection of the actionable target, will be discussed.
尽管目前治疗取得了进展，但小儿型弥漫性神经胶质瘤仍是中枢神经系统（CNS）中最致命的原发性恶性肿瘤之一。由于小儿型 CNS 肿瘤是罕见的疾病实体，且高度异质，因此诊断具有挑战性。准确的诊断对于选择最佳治疗方案至关重要，这将导致精准肿瘤学和改善患者的预后。全基因组 DNA 甲基化分析最近成为 CNS 肿瘤诊断的最重要工具之一，该新检测方法已在儿科和成人患者中得到报道。在 2021 年发布的现行世界卫生组织分类中，小儿型弥漫性神经胶质瘤中确认了几个新实体，其中一些需要进行甲基化分析。在这篇综述中，我们研究了全基因组 DNA 甲基化分析在小儿型弥漫性神经胶质瘤中的应用，以及该检测方法在临床应用中的问题。此外，还将讨论全基因组 DNA 甲基化分析与其他综合基因组检测方法的结合，这可能会提高诊断准确性和可操作靶点的检测。
