小児脳腫瘍の分子診断

Molecular Genetic Analysis of Childhood Brain Tumors

Point

・小児脳腫瘍では診断困難例がしばしば認められ，診断補助のため分子遺伝学的解析が有効である．

・網羅的メチル化解析による分子分類は，特にhallmarkとなる遺伝子異常のない脳腫瘍の診断，分類に役立つ．

　Clinicians commonly encounter cases of childhood brain tumors that are difficult to diagnose pathologically in a clinical setting. In such situations, molecular genetic analysis is essential for the diagnosis and clinical management of pediatric brain tumors. This analysis supports pathological diagnosis, identifies potential targets for molecular therapy, and predicts patient prognosis. According to the updated World Health Organization classification of central nervous system (CNS) tumors, molecular genetic analysis is essential for diagnosing several brain tumors, including High-Grade Astrocytoma with Piloid Features (HGAP) and diffuse glioneuronal tumors with oligodendroglioma-like features and nuclear clusters (DGONC). Comprehensive Genomic Profiling (CGP) was first made available for molecular analysis in our country in 2019. Herein, we describe the clinical importance of detecting molecular alterations in pediatric brain tumors. This article also provides a comprehensive review of molecular classification using DNA methylation analysis, which has recently emerged as a diagnostic tool for CNS tumors.