Supratentorial ependymoma with YAP1:FAM118B fusion: A case report.

幕上室管膜瘤伴 YAP1: FAM118B 融合 1 例.

• 影响指数: 2.076
• 发表时间: Apr 2021
• 来源期刊: Neuropathology
• DOI: 10.1111/neup.12712
• PMID: 33480048
• 文章类型: Case Reports
• 中科院分区: Q3
• 方向: 医学
• 作者列表: Wang J,Wang L,Fu L,Li QC,Qiu XS,Wang EH,Yu JH

关键词: YAP1-FAM118B fusion; ependymoma; molecular classification; neuroepithelial neoplasm; supratentorial

Mesh: Adaptor Proteins, Signal Transducing / genetics metabolism; Adult; Ependymoma / diagnosis genetics pathology; Frontal Lobe / pathology; Humans; Magnetic Resonance Imaging / methods; Male; Seizures / pathology; Supratentorial Neoplasms / diagnosis genetics pathology; Transcription Factor RelA / genetics; Transcription Factors / genetics metabolism; YAP-Signaling Proteins

Abstract

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 O6 -methylguanine-DNA methyltransferase gene promoter were detected. This is the second case report of ependymoma with YAP1:FAM118B fusion.

摘要

我们报告了一例26岁的中国男子，他在过去两个月中经历了三次大发作。磁共振成像显示左额叶有相对明确的病灶。进行了完全切除肿瘤的开颅手术。根据世界卫生组织的分类，组织病理学研究证实了2级室管膜瘤。遗传分析显示肿瘤有FAM118B与YAP1融合，未检测到O6-甲基鸟嘌呤-DNA甲基转移酶基因启动子的其他遗传改变或甲基化。这是第二例YAP1：FAM118B融合的室管膜瘤。