Department of Neurosurgery, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, 200127, China.
Department of Neurosurgery, West China Hospital, Sichuan University, Chengdu, 610041, China.
J Mol Neurosci. 2021 Aug;71(8):1598-1604. doi: 10.1007/s12031-021-01796-9. Epub 2021 Feb 1.
The 2016 World Health Organization classification of central nervous system tumor firstly introduces molecular diagnosis to glioma, while the molecular features of adult thalamic gliomas (ATGs) in a relatively large sample have not been reported. We aimed at exploring molecular characteristics in ATGs. The data of 97 and 575 newly diagnosed ATGs and superficial gliomas (SGs) patients were collected, and we performed a comparative analysis of molecular characteristics between them. We analyzed expressions of molecules as follow: H3 K27M, isocitrate dehydrogenase1 (IDH1), Ki-67, O6-Methylguanine-DNA methyltransferase (MGMT) promoter, EGFR, p53, ATRX, GFAP, Oligo2, PTEN, MGMT, and MMP9 by immunohistochemistry. Direct gene sequencing was performed to test the H3 K27M, IDH1, and TERT promoter mutation. The median age at diagnosis of ATGs was 36.0 years, and majority of them were high-grade glioma. We found a significant difference in H3 K27M mutation (P = 0.003), IDH1 mutation (P < 0.001), MGMT promoter methylation (P = 0.005), and Ki67 > 0.1 (P < 0.001) between ATGs and SGs. The statuses of IDH1 (P < 0.001), MGMT promoter (P < 0.001), and Ki67 (P < 0.001) were significantly different between these two groups in lower-grade gliomas. And statuses of IDH1 (P < 0.001), Ki67 (P < 0.001), and EGFR (P = 0.032) were different between these two groups in high-grade gliomas. Only Ki67 > 0.1 was differentially expressed between lower- and high-grade gliomas in ATGs (P = 0.014). The high occurrence of H3 K27M mutation and Ki67 > 0.1, rare occurrence of IDH1 mutation, and MGMT promoter methylation in ATGs suggested that ATGs may be a distinct type of glioma entity.
2016 年世界卫生组织中枢神经系统肿瘤分类首次将分子诊断引入胶质肿瘤，而在较大样本中成人丘脑胶质瘤（ATG）的分子特征尚未报道。我们旨在探索 ATG 的分子特征。收集了 97 例和 575 例新诊断的 ATG 和浅表胶质瘤（SG）患者的数据，并对它们之间的分子特征进行了比较分析。我们通过免疫组织化学分析了以下分子的表达：H3 K27M、异柠檬酸脱氢酶 1（IDH1）、Ki-67、O6-甲基鸟嘌呤-DNA 甲基转移酶（MGMT）启动子、表皮生长因子受体（EGFR）、p53、ATRX、GFAP、Oligo2、PTEN、MGMT 和 MMP9。直接基因测序用于检测 H3 K27M 突变、IDH1 突变和 TERT 启动子突变。ATG 的中位诊断年龄为 36.0 岁，大多数为高级别胶质瘤。我们发现 H3 K27M 突变（P=0.003）、IDH1 突变（P<0.001）、MGMT 启动子甲基化（P=0.005）和 Ki67>0.1（P<0.001）在 ATG 和 SG 之间存在显著差异。在低级别胶质瘤中，IDH1（P<0.001）、MGMT 启动子（P<0.001）和 Ki67（P<0.001）的状态在这两组之间有显著差异。在高级别胶质瘤中，IDH1（P<0.001）、Ki67（P<0.001）和 EGFR（P=0.032）的状态在这两组之间有差异。仅在 ATG 中，Ki67>0.1 在低级别和高级别胶质瘤之间有差异表达（P=0.014）。ATG 中 H3 K27M 突变和 Ki67>0.1 的高发生率、IDH1 突变和 MGMT 启动子甲基化的罕见发生率表明 ATG 可能是一种独特的胶质瘤实体。
