DNA Methylation-Based Classification of the Central Nervous System Tumors, Achievements, and Challenges
Year: 2025
Type: book-chapter
Abstract: The classification, grading, and risk stratification of central nervous system (CNS) tumors have rapidly evolved with the advent of integrative advanced molecular testing. Here, we review the advances and challenges associated with DNA methylation-based classification of central nervous system (CNS) tumors. Specifically, we will review the brief background information about the role of epigenetic signatures, including DNA methylation status of CpG islands, in identifying the cell of origin, bioinformatic methods, and products of DNA methylation profiling, namely t-distributed stochastic neighbor embedding (t-SNE) plot vs. uniform manifold approximation and projection (UMAP), CNS tumor classifications, methylguanine methyltransferase (MGMT), and chromosomal copy number variations. We will follow with the diagnostic utility, accuracy, and impact on clinical outcomes. We will conclude the chapter by highlighting the limitations of DNA methylation, bioethical issues, and the future directions for this diagnostic tool.
Source: IntechOpen eBooks
Language: English
Subfield: Genetics
Field: Medicine
Domain: Health Sciences
Open Access status: hybrid
OpenAlex ID: W4406926932