摘要目的:探讨脊索样胶质瘤的临床病理学特征。方法:收集2009—2020年首都医科大学宣武医院和解放军总医院共12例脊索样胶质瘤病例进行回顾性总结，分析其临床和影像学特征、病理学及分子遗传学特点，并复习相关文献。结果:12例患者中男性4例，女性8例。年龄25~67岁（平均年龄39岁）。患者多以视力下降或头痛起病。影像学提示病变均位于鞍上第三脑室区，磁共振成像（MRI）增强均显示有异常强化信号。组织病理学显示12例均表现为脊索样胶质瘤的形态学特点，其中2例存在乳头样结构。全部12例（12/12）肿瘤细胞均表达胶质纤维酸性蛋白和波形蛋白；此外10例（10/10）肿瘤细胞均表达甲状腺转录因子1，11例（11/12）肿瘤细胞弥漫或灶状表达广谱细胞角蛋白及CD34，9例（9/12）上皮细胞膜抗原呈现核旁点状阳性或/和细胞膜着色。9例脊索样胶质瘤采用Sanger测序检测，发现8例存在PRKCA基因D463H突变，IDH1 R132及IDH2 R172位点均未检测到突变。12例患者中，除4例失访外，其余患者随访至2021年1月均未发现肿瘤进展或复发。结论:脊索样胶质瘤在临床、病理组织学方面均具有相对独特的特征，且绝大多数病例伴有特征性的PRKCA基因D463H突变，可考虑将其作为脊索样胶质瘤诊断和鉴别诊断的参考依据，并为以后的分子遗传学机制研究和靶向治疗提供了方向。

abstractsObjective:To analyze the clinicopathological features of chordoid glioma.Methods:A total of 12 cases of chordoid gliomas from 2009 to 2020 in Xuanwu Hospital of Capital Medical University and General Hospital of Chinese People′s Liberation Army were retrospectively analyzed. The clinical and imaging characteristics, pathologic and molecular characteristics were analyzed, and the relevant literature was reviewed.Results:All 12 patients (4 males and 8 females) aged from 25 to 67 years (mean 39 years) and mainly had a history of headache or/and vision loss. MRI showed that the lesions located in the third ventricle, and they showed abnormal enhancement. Pathologically, these 12 cases displayed the morphologic characteristics of chordoid gliomas, including papillary structures in two cases. Immunohistochemically, GFAP and vimentin were expressed in all 12 cases (12/12). TTF1 was also expressed in all cases (10/10). CD34 and CKpan were seen in 11 cases (11/12). EMA with dot-and/or-ring like positivity was seen in 9 cases (9/10). Tissues were available in nine chordoid gliomas for Sanger sequencing to detect PRKCA and IDH gene mutation, and eight cases (8/9) showed PRKCA gene D463H mutation. None of these cases showed IDH1 R132 and IDH2 R172 mutation. All 12 patients underwent surgery, and four were lost to follow up. The remaining eight patients were progression or recurrence free at last follow-up in January 2021.Conclusions:Chordoid gliomas have relatively distinguishing clinical and histopathological features. PRKCA gene mutation in chordoid gliomas can be considered as a biomarker for the diagnosis and differential diagnosis of chordoid gliomas, and may provide a direction for future targeted therapy.