Department of Neurology, The First Affiliated Hospital, Sun Yat-Sen University, Guangzhou, Guangdong Province, China.
Department of Neurology, Qionghai City People's Hospital, Qionghai, Hainan Province, China.
J Int Med Res. 2021 Jan;49(1):300060520981266. doi: 10.1177/0300060520981266.
Diffuse midline glioma with the H3.3 histone A () or H3 clustered histone 2/3 () K27M mutation occurs primarily in children and less frequently in adults involving the midline structures of the central nervous system. This case report describes an adult patient with a diffuse midline glioma H3 K27M mutant in the prepontine cistern, which is an unusual site in clinical practice. The clinical, radiographic and histopathological data from the case are presented. Magnetic resonance imaging showed a progressively enlarged and enhanced nodule in the right prepontine cistern, with diffuse involvement of the meninges and communicating hydrocephalus. Analysis of the cerebrospinal fluid occasionally found suspiciously atypical cells with hyperchromatic nuclei and multiple nucleoli, as well as a severely elevated opening pressure and protein level, slightly elevated white cell count and decreased chloride level. Empirical antituberculosis treatment was administered but eventually proved to be ineffective. The definite diagnosis was made by histopathological analysis of the lesion based on the features of positive H3 K27M mutant protein and diffusely infiltrating growth. A diffuse midline glioma with the H3 K27M mutation may rarely present in an unusual site. A biopsy is recommended at an early stage for suspected cases to facilitate a definite diagnosis.
弥漫性中线胶质瘤伴 H3.3 组蛋白 A (K27M) 或 H3 簇集组蛋白 2/3 (K27M) 突变主要发生在儿童，在成人中较少见，涉及中枢神经系统的中线结构。本病例报告描述了一例弥漫性中线胶质瘤 H3 K27M 突变型患者，病变位于桥前池，这在临床实践中是一个不常见的部位。本文介绍了该病例的临床、影像学和组织病理学资料。磁共振成像显示右侧桥前池逐渐增大并强化的结节，脑膜弥漫受累并伴有交通性脑积水。分析脑脊液时偶尔会发现可疑的非典型细胞，细胞核深染，多个核仁，伴有严重升高的颅内压和蛋白水平、稍高的白细胞计数和降低的氯水平。经验性抗结核治疗，但最终被证明无效。根据病变的组织病理学分析，基于 H3 K27M 突变蛋白阳性和弥漫浸润性生长的特征，明确诊断为弥漫性中线胶质瘤。弥漫性中线胶质瘤 H3 K27M 突变型可能很少出现在不常见的部位。建议对疑似病例进行早期活检，以利于明确诊断。
