The definitive diagnosis and classification of individual cancers are crucial for patient care and cancer research. To achieve a robust diagnosis of central nervous system (CNS) tumors, a genotype-phenotype integrated diagnostic approach was introduced in recent versions of the World Health Organization classification, followed by the incorporation of a genome-wide DNA methylome-based classification. Microarray-based platforms are widely used to obtain DNA methylome data, and the German Cancer Research Center (Deutsches Krebsforschungszentrum [DKFZ]) has a webtool for a DNA methylation-based classifier (DKFZ classifier). Integration of DNA methylome will further enhance the precision of CNS tumor classification, especially in diagnostically challenging cases. However, in the clinical application of DNA methylome-based classification, challenges related to data interpretation persist, in addition to technical caveats, regulations, and limited accessibility. Dimensionality reduction (DMR) can complement integrated diagnosis by visualizing a profile and comparing it with other known samples. Therefore, DNA methylome-based classification is a highly useful research tool for auxiliary analysis in challenging diagnostic and rare disease cases, and for establishing novel tumor concepts. Decoding the DNA methylome, especially by DMR in addition to DKFZ classifier, emphasizes the capability of grasping the fundamental biological principles that provide new perspectives on CNS tumors.

中文翻译：

---

解码中枢神经系统肿瘤的 DNA 甲基化组：一种新兴的综合诊断方式

个体癌症的明确诊断和分类对于患者护理和癌症研究至关重要。为了实现中枢神经系统 (CNS) 肿瘤的可靠诊断，最新版本的世界卫生组织分类中引入了基因型-表型综合诊断方法，随后纳入了基于全基因组 DNA 甲基化组的分类。基于微阵列的平台广泛用于获取 DNA 甲基化数据，德国癌症研究中心 (Deutsches Krebsforschungszentrum [DKFZ]) 拥有用于基于 DNA 甲基化的分类器 (DKFZ 分类器) 的网络工具。 DNA甲基化组的整合将进一步提高中枢神经系统肿瘤分类的精度，特别是在诊断具有挑战性的病例中。然而，在基于 DNA 甲基化组的分类的临床应用中，除了技术注意事项、法规和有限的可访问性之外，与数据解释相关的挑战仍然存在。降维 (DMR) 可以通过可视化轮廓并将其与其他已知样本进行比较来补充综合诊断。因此，基于 DNA 甲基化组的分类是一种非常有用的研究工具，可用于辅助分析具有挑战性的诊断和罕见疾病病例，以及建立新的肿瘤概念。解码 DNA 甲基化组，尤其是通过 DMR 和 DKFZ 分类器，强调掌握基本生物学原理的能力，从而为中枢神经系统肿瘤提供新的视角。