Department of Pathology, The First Affiliated Hospital and College of Basic Medical Sciences, China Medical University, Shenyang, China.
Neuropathology. 2021 Apr;41(2):133-138. doi: 10.1111/neup.12712. Epub 2021 Jan 22.
We report a case of a 26-year-old Chinese man who had experienced three grand mal seizures in the past two months. Magnetic resonance imaging revealed a relatively well-circumscribed lesion in the left frontal lobe. A craniotomy with total excision of the tumor was performed. Histopathological investigations confirmed a grade 2 ependymoma according to the World Health Organization classification. Genetic analysis revealed a tumor harboring FAM118B fusion to YAP1, and no other genetic alterations or methylation of the O -methylguanine-DNA methyltransferase gene promoter were detected. This is the second case report of ependymoma with YAP1:FAM118B fusion.
我们报告了一例 26 岁的中国男性患者，他在过去两个月中经历了三次全面性强直阵挛发作。磁共振成像显示左额叶有一个相对界限清楚的病变。患者接受了开颅手术，肿瘤完全切除。组织病理学研究根据世界卫生组织分类证实为 2 级室管膜瘤。基因分析显示肿瘤存在 FAM118B 融合到 YAP1，未检测到其他遗传改变或 O -甲基鸟嘌呤-DNA 甲基转移酶基因启动子的甲基化。这是第二例报告的具有 YAP1:FAM118B 融合的室管膜瘤病例。
