摘要： 目的 参照2021年世界卫生组织（WHO）中枢神经系统肿瘤分类（第五版，以下简称新版肿瘤分类），报告胶质瘤的组织学形态、免疫表型和分子诊断并进行分型分类。方法 纳入2019年7月至2021年7月中国人民解放军南部战区总医院收治的经基因检测确诊的60例胶质瘤患者，均行HE染色、免疫组化染色和基因检测，行组织病理学诊断和分子诊断，参照新版肿瘤分类进行分型分类。结果 共60例胶质瘤根据新版肿瘤分类分为毛细胞型星形细胞瘤（1例，1.67%）；神经节细胞胶质瘤（1例，1.67%）；星形细胞瘤，IDH突变型（15例，25%）；少突胶质细胞瘤，IDH突变伴1p/19q共缺失型（11例，18.33%）；多形性黄色瘤型星形细胞瘤（1例，1.67%）；胶质母细胞瘤，IDH野生型（21例，35%）；弥漫性中线胶质瘤，H3 K27变异型（3例，5%）；胶质瘤，NEC（7例，11.67%）。7例胶质瘤，NEC患者的组织病理学诊断分别为弥漫性星形细胞瘤（2例）、间变性星形细胞瘤（1例）、少突胶质细胞瘤（2例）、间变性少突胶质细胞瘤（1例）和神经节细胞胶质瘤（1例）；分子诊断，仅1例为O⁶-甲基鸟嘌呤-DNA甲基转移酶（MGMT）启动子甲基化、1例BRAF V600E突变。21例胶质母细胞瘤，IDH野生型患者的组织病理学诊断分别为胶质母细胞瘤（15例）、少突胶质细胞瘤（1例）、间变性少突胶质细胞瘤（2例）、弥漫性星形细胞瘤（2例）和间变性星型细胞瘤（1例）；分子诊断，15例（71.43%）TERT启动子突变、7例（33.33%）EGFR扩增、5例（23.81%）MGMT启动子甲基化、1例（4.76%）第7号染色体扩增。15例星形细胞瘤，IDH突变型，CNS WHO 2~4级患者的组织病理学诊断为胶质母细胞瘤（3例）、少突胶质细胞瘤（2例）、间变性少突胶质细胞瘤（1例）、弥漫性星形细胞瘤（8例）和间变性星形细胞瘤（1例）；分子诊断，11例MGMT启动子甲基化，2例细胞周期蛋白依赖性激酶抑制基因2A/B（CDKN2A/B）纯合性缺失。结论 本文是新版肿瘤分类发布以来首次单中心胶质瘤病理诊断报告，提示新版肿瘤分类可更精准地对胶质瘤进行分类，但NEC比例仍较高，且即使分类准确的胶质瘤仍存在不同的基因变异，胶质瘤的分子特征有待进一步探索。

关键词: 神经胶质瘤, 世界卫生组织, 指南, 中枢神经系统肿瘤

Abstract: Objective Histological morphology, immunophenotype and molecular diagnosis of gliomas were reported and classified according to fifth edition of the 2021 World Health Organization (WHO) Classification of Tumors of the Central Nervous System (WHO CNS5). Methods Total 60 glioma patients with a clear diagnosis through genetic testing were collected in General Hospital of Southern Theatre Command of Chinese PLA from July 2019 to July 2021. All of them were diagnosed based on histopathology and molecular alterations by HE staining, immunohistochemical staining, and genetic screening and were classified according to the WHO CNS5. Results A total of 60 gliomas, according to WHO CNS5, were classified into one with pilocytic astrocytoma (1.67%), one with ganglioglioma (1.67%), 15 with astrocytomas, IDH-mutant (25%), 11 with oligodendrogliomas, IDH-mutant and 1p/19q co-deleted (18.33%), one with pleomorphic xanthoastrocytoma (1.67%), 21 with glioblastomas, IDH-wildtype (35%), 3 with diffuse midline glioma, H3 K27-altered (5%) and 7 with glioma, NEC (11.67%). The 7 patients with glioma, NEC were respectively diagnosed based on histopathology as anaplastic astrocytoma in one case, oligodendrogliomas in 2 cases, diffuse astrocytomas in 2 cases, ganglioglioma in one case, and anaplastic oligodendroglioma in one case, with only one case with methylguanine-DNA methyltransferase (MGMT) promoter methylation and one case with BRAF V600E mutation by genetic screening. The 21 patients with glioblastoma, IDH-wildtype were respectively diagnosed based on histopathology as glioblastoma in 15 cases, oligodendroglioma in one case, anaplastic oligodendroglioma in 2 cases, diffuse astrocytoma in 2 cases and anaplastic astrocytoma in one case, while TERT promoter mutation in 15 cases (71.43%), EGFR amplification in 7 cases (33.33%), MGMT promoter methylation in 5 patients (23.81%) and amplification of chromosome 7 in one case (4.76%). The 15 patients with astrocytoma, IDH-mutant, CNS WHO grade 2-4 were diagnosed based on histopathology as glioblastoma in 3 cases, oligodendroglioma in 2 cases, anaplastic oligodendroglioma in one case, diffuse astrocytoma in 8 cases and anaplastic astrocytoma in one case, with MGMT promoter methylation in 11 cases, homozygous deletion of cyclin-dependent kinase inhibitor 2A/B (CDKN2A/B) in 2 cases. Conclusions This article is the first pathological diagnosis report of single-center glioma since the publication of WHO CNS5, suggesting the WHO CNS5 could more accurately classify gliomas. However, the proportion of glioma, NEC diagnosed is still relatively high. Even well-classified gliomas have many differences in genetic signature. The molecular features of gliomas still require further deeply exploration.

Key words: Glioma, World Health Organization, Guidelines, Central nervous system neoplasms