Zhao Xiao-Yu, Yu Juan-Han, Wang Yi-Hua, Liu Yi-Xin, Xu Lu, Fu Lin, Yi Ning
China Medical University, The First Hospital of China Medical University, Shenyang 110001, Liaoning Province, China.
Department of Pathology, The First Hospital of China Medical University, Shenyang 110001, Liaoning Province, China.
World J Clin Cases. 2025 Jan 6;13(1):99746. doi: 10.12998/wjcc.v13.i1.99746.
Ependymoma with lipomatous differentiation is a rare type of ependymoma. The ZFTA fusion-positive supratentorial ependymoma is a novel tumor type in the 2021 World Health Organization classification of central nervous system tumors. ZFTA fusion-positive lipomatous ependymoma has not been reported to date.
We reported a case of a 15-year-old Chinese male who had a sudden convulsion lasting approximately six minutes. Magnetic resonance imaging showed a round cystic shadow of approximately 1.9 cm × 1.5 cm × 1.9 cm under the right parieto-occipital cortex. Microscopic examination showed characteristic perivascular pseudorosettes and adipose differentiation in the cytoplasm. Immunohistochemical staining showed that the tumor cells were negative for cytokeratin, NeuN, Syn and p53, but positive for GFAP, vimentin and S-100 protein. Significant punctate intracytoplasmic EMA immunoreactivity was observed. The level of Ki-67 was about 5%. Genetic analysis revealed ZFTA: RELA fusion. A craniotomy with total excision of the tumor was performed. The follow-up time was 36 months, no evidence of disease recurrence was found in magnetic resonance imaging.
Based on these findings, the patient was diagnosed as a ependymoma with ZFTA fusion and lipomatous differentiation. This case report provides information on the microscopic morphological features of ependymoma with ZFTA fusion and lipomatous differentiation, which can help pathologists to make a definitive diagnosis of this tumor.
伴有脂肪化生的室管膜瘤是一种罕见的室管膜瘤类型。ZFTA融合阳性的幕上室管膜瘤是2021年世界卫生组织中枢神经系统肿瘤分类中的一种新型肿瘤。迄今为止，尚未报道过ZFTA融合阳性的脂肪性室管膜瘤。
我们报告了一例15岁中国男性患者，该患者突然抽搐，持续约6分钟。磁共振成像显示右侧顶枕叶皮质下有一个约1.9 cm×1.5 cm×1.9 cm的圆形囊性阴影。显微镜检查显示有特征性的血管周围假菊形团以及细胞质内脂肪化生。免疫组织化学染色显示肿瘤细胞细胞角蛋白、神经元核抗原、突触素和p53均为阴性，但胶质纤维酸性蛋白、波形蛋白和S-100蛋白为阳性。观察到明显的点状细胞质内上皮膜抗原免疫反应性。Ki-67水平约为5%。基因分析显示ZFTA:RELA融合。行开颅肿瘤全切术。随访时间为36个月，磁共振成像未发现疾病复发迹象。
基于这些发现，该患者被诊断为伴有ZFTA融合和脂肪化生的室管膜瘤。本病例报告提供了伴有ZFTA融合和脂肪化生的室管膜瘤的微观形态学特征信息，有助于病理学家对该肿瘤做出明确诊断。
