Gliofibroma is a rare tumour entity with glial and mesenchymal histological features. We describe the case of a 30-year-old woman who presented with a short history of intermittent left-sided facial pain and paraesthesia of the left upper extremity. Histologically, the tumour consisted of a mixture of glial fibrillary acidic protein (GFAP)-positive glial cells and collagen-rich stroma. Immunohistochemical and molecular analysis showed no IDH1/2, BRAF, H3F3A mutations or ATP-dependent helicase (ATRX) loss in this tumour. Illumina Infinium HumanMethylation450 BeadChip array (HM450) methylation profile of the tumour was different from typical glioma entities. Genome-wide DNA copy number analysis showed partial loss of chromosome 3 and 8. All previous cases are reviewed. Our data support the classification of gliofibroma as a rare, but distinct brain tumour entity with good prognosis.

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胶质纤维瘤病例的表观基因组数据收集

胶质纤维瘤是一种罕见的肿瘤实体，具有胶质和间充质组织学特征。我们描述了一名 30 岁女性的病例，她有短暂的左侧面部疼痛和左上肢感觉异常的短暂病史。组织学上，肿瘤由胶质纤维酸性蛋白（GFAP）阳性胶质细胞和富含胶原的基质的混合物组成。免疫组织化学和分子分析显示该肿瘤中没有 IDH1/2、BRAF、H3F3A 突变或 ATP 依赖性解旋酶 (ATRX) 丢失。Illumina Infinium HumanMethylation450 BeadChip 阵列 (HM450) 肿瘤的甲基化谱与典型的神经胶质瘤实体不同。全基因组 DNA 拷贝数分析显示 3 号和 8 号染色体部分丢失。回顾了所有以前的病例。我们的数据支持将胶质纤维瘤分类为罕见的，