Department of Neurology, West Virginia University, Morgantown, WV 26506, USA.
Department of Neurosurgery, West Virginia University, Morgantown, WV, USA.
CNS Oncol. 2021 Sep 1;10(3):CNS75. doi: 10.2217/cns-2021-0008.
Glioblastoma multiforme is the most common malignant primary brain tumor in adults. Histone H3 mutations have been identified in pediatric and adult gliomas, with H3K27M mutations typically associated with a posterior fossa midline tumor location and poor prognosis. Leptomeningeal disease is a known complication of histone-mutant glioma, but uncommon at the time of initial diagnosis. We describe a case of glioblastoma with H3K27M mutation that initially presented with progressive vision loss due to diffuse leptomeningeal disease in the absence of a mass lesion other than a small cerebellar area of enhancement and with cerebrospinal fluid cytology negative for malignant cells on two occasions, highlighting the importance of including primary CNS malignancies in the differential of diffuse radiographic leptomeningeal enhancement.
多形性胶质母细胞瘤是成人中最常见的恶性原发性脑肿瘤。组蛋白 H3 突变已在儿童和成人胶质瘤中被鉴定出来，H3K27M 突变通常与后颅窝中线肿瘤位置和预后不良相关。脑膜疾病是组蛋白突变型胶质瘤的已知并发症，但在初始诊断时并不常见。我们描述了一例 H3K27M 突变的胶质母细胞瘤，最初表现为进行性视力丧失，原因是弥漫性脑膜疾病，除了小脑区域有一小部分增强外，没有肿块病变，两次脑脊液细胞学检查均未发现恶性细胞，这突出了在弥漫性放射状脑膜增强的鉴别诊断中包括原发性中枢神经系统恶性肿瘤的重要性。
