DNA甲基化
计算生物学
仿形(计算机编程)
表观遗传学
生物
表观遗传学
甲基化
背景(考古学)
神经科学
标准化
基因组
生物信息学
CpG站点
人类基因组
DNA测序
病态的
计算机科学
后生
小RNA
临床诊断
遗传学
表观基因组
DNA
出处
期刊:PubMed
[National Institutes of Health]
日期:2026-06-08
卷期号:55 (6): 507-510
标识
DOI:10.3760/cma.j.cn112151-20260214-00129
摘要
Genome-wide DNA methylation profiling, a high-throughput epigenomic technology, systematically examines the methylation status of CpG sites across the genome to generate "methylation fingerprints" that reflect cellular origins and developmental states. This technique has emerged as a transformative tool in the diagnosis of central nervous system (CNS) tumors. This article introduces the principles of this technology, along with its significant applications and major limitations in the diagnosis of CNS tumors. It proposes that current pathological diagnosis of CNS tumors should adopt an integrated diagnostic model centered on the pathologist, emphasizing that methylation profiling serves as an adjunctive tool rather than a replacement. Any methylation-derived result must be interpreted within the comprehensive context of clinical, radiological, histopathological, and molecular data. In the future, with advances in explainable artificial intelligence, multi-omics integration, and international standardization efforts, this technology is expected to evolve from a "revolutionary tool" into an "intelligent assistant" deeply integrated with pathological diagnosis.
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