[Role and limitations of genome-wide DNA methylation profiling in the diagnosis of brain tumors].

Journal: Zhonghua bing li xue za zhi = Chinese journal of pathology
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Abstract

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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