Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan.
Division of Orthopedic Surgery, Niigata University Graduate School of Medical and Dental Sciences, Niigata University, Niigata, Japan.
J Neuropathol Exp Neurol. 2024 Dec 1;83(12):1010-1019. doi: 10.1093/jnen/nlae084.
Primary spinal cord gliomas are rare and are associated with high mortality. Unlike brain tumors, the clinicopathological features of spinal cord gliomas are not well defined. We analyzed clinical, histopathology, and immunohistochemical features and overall survival (OS) of 25 patients with primary spinal cord gliomas treated between 1994 and 2023 at 4 institutions. IDH1 R132H, H3K27M, and p53 were assessed by immunohistochemistry (IHC). Four (16%), 5 (20%), 2 (8%), and 13 (52%) patients were diagnosed as having grades 1, 2, 3, and 4 gliomas according to the World Health Organization (WHO) 2021 classification, respectively. One case (4%), with a circumscribed diffuse midline glioma, H3K27-altered, had a rare molecular profile and could not be graded. IHC demonstrated H3K27M positivity, indicative of H3F3A K27M or HIST1H3B K27M mutation, in 9 (36%) patients. H3K27me3-loss was evident in 13 (52%) patients. In one patient with a grade 1 tumor that showed negative staining for H3K27M and H3K27me3 loss, numbers of EZHIP-positive cells were increased, suggesting diffuse midline glioma, H3K27-altered (WHO grade 4). H3K27me3 loss, frequency of p53 positive cells (≥10%), MIB-1 index (≥10%), and high histopathological grades significantly correlated with poor OS. These results indicate the pathological and immunohistochemical characteristics of primary spinal cord gliomas that impact prognosis.
原发性脊髓神经胶质瘤较为罕见，且死亡率较高。与脑肿瘤不同，脊髓神经胶质瘤的临床病理特征尚未明确。我们分析了 4 家机构在 1994 年至 2023 年间治疗的 25 例原发性脊髓神经胶质瘤患者的临床、组织病理学和免疫组织化学特征及总生存期（OS）。采用免疫组织化学（IHC）检测 IDH1 R132H、H3K27M 和 p53。根据 2021 年世界卫生组织（WHO）分类，4 例（16%）、5 例（20%）、2 例（8%）和 13 例（52%）患者分别被诊断为 1 级、2 级、3 级和 4 级神经胶质瘤。1 例（4%）具有局限性弥漫性中线神经胶质瘤，H3K27 改变，具有罕见的分子特征，无法分级。9 例（36%）患者的 IHC 显示 H3K27M 阳性，提示 H3F3A K27M 或 HIST1H3B K27M 突变。13 例（52%）患者存在 H3K27me3 缺失。在 1 例 H3K27M 和 H3K27me3 缺失均为阴性、组织学分级为 1 级的患者中，EZHIP 阳性细胞数量增加，提示弥漫性中线神经胶质瘤，H3K27 改变（WHO 分级 4 级）。H3K27me3 缺失、p53 阳性细胞频率（≥10%）、MIB-1 指数（≥10%）和高组织学分级与较差的 OS 显著相关。这些结果表明了影响预后的原发性脊髓神经胶质瘤的病理和免疫组织化学特征。
