一例高级别胶质瘤，在一名老年患者中分类不明，伴有不一致的基因和表观遗传分析。
A High-Grade Glioma, Not Elsewhere Classified in an Older Adult with Discordant Genetic and Epigenetic Analyses.
作者信息
Yuen Carlen A, Bao Silin, Kong Xiao-Tang, Terry Merryl, Himstead Alexander, Zheng Michelle, Pekmezci Melike
机构信息
Neuro-Oncology Division, Department of Neurology, University of California, Irvine, CA 92868, USA.
Neurosciences Division, Department of Internal Medicine, Community Regional Medical Center, Fresno, CA 93721, USA.
出版信息
Biomedicines. 2024 Sep 8;12(9):2042. doi: 10.3390/biomedicines12092042.
The World Health Organization's (WHO) classification of central nervous system (CNS) tumors is continually being refined to improve the existing diagnostic criteria for high-grade gliomas (HGGs), including glioblastoma. In 2021, advances in molecular analyses and DNA methylation profiling were incorporated to expand upon the diagnostic criteria for HGG, including the introduction of high-grade astrocytoma with piloid features (HGAP), a new tumor entity for which a match to the HGAP class in DNA methylation profiling is an essential criterion. We present an equivocal case of a 72-year-old male with an HGG exhibiting features of both HGAP and glioblastoma, but which did not conform to any existing 2021 WHO classification of CNS tumor entities. This "no match" in DNA methylation profiling resulted in a final diagnosis of HGG not elsewhere classified (NEC), for which standard treatment options do not exist.
世界卫生组织（WHO）对中枢神经系统（CNS）肿瘤的分类在不断完善，以改进包括胶质母细胞瘤在内的高级别胶质瘤（HGG）的现有诊断标准。2021年，分子分析和DNA甲基化谱分析方面的进展被纳入，以扩展HGG的诊断标准，包括引入具有毛细胞样特征的高级别星形细胞瘤（HGAP），这是一种新的肿瘤实体，DNA甲基化谱分析中与HGAP类别匹配是一项基本标准。我们报告了一例模棱两可的病例，一名72岁男性患有HGG，兼具HGAP和胶质母细胞瘤的特征，但不符合2021年WHO CNS肿瘤实体的任何现有分类。DNA甲基化谱分析中的这种“不匹配”导致最终诊断为其他部位未分类的HGG（NEC），对此不存在标准治疗方案。
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