Abstract: Objective To explore the clinicopathological features of gliomatosis cerebri. Methods The clinical manifestations, neuroimaging, histopathological and immunohistochemical features were analysed in one case of gliomatosis cerebri. Related literatures were reviewed. Results A 24-year-old man presented with a seizure which started as paroxysmal amaurosis and progressed to loss of consciousness and severe headache. The magnetic resonance imaging (MRI) showed a diffuse slight hyperintensity in the left temporoparietal and basal ganglial region. The magnetic resonance spectroscopy (MRS) showed an increased Cho/NAA ratio. The patient subsequently underwent a craniotomy with part of left temporal tissue and hippocampus resection. Microscopically, there was diffuse infiltration of the brain parenchyma by low to moderate cellularity of astrocyte-like cells with elongated, fusiform and mildly hyperchromatic nuclei. Mitotic figure was rare. Microvascular proliferation and necrosis were absent. Secondary structures, including subpial and subependymal condensation, perivascular aggregates and perineuronal satellitosis were evident. The distinction between grey and white matter was blurred. There was very little destruction of the pre-existing parenchyma. On immunohistochemical examination, the neoplasm was reactive for glial fibrillary acidic protein (GFAP), S-100 protein (S-100) and negtive for oligodendrocyte lineage transcription factor 2 (Olig-2), synaptophysin (Syn) and neuronal nuclei (NeuN). TP53 protein was overexpressed in 8% of tumor cells. Ki-67 antigen labeled index was about 10% . Conclusion Gliomatosis cerebri is an unusual and aggressive glial neoplasm with infiltrative involvement of at least three cerebral lobes. There is minimal mass effect by neuroimaging, but MRI and MRS findings can suggest the diagnosis of gliomatosis cerebri. Histologically, the tumor cells are diffuse infiltrative and may form secondary structures. The differential diagnosis include multicentric/multifocal glioma and demyelinating disease and so on. TP53 immunoreactivity and increased Ki-67 antigen labeled index are important for distinguishing gliomatosis cerebri from other non-neoplastic diseases.

Key words: Brain neoplasms, Glioma, Pathology, Magnetic resonance imaging, Immunohistochemistry

摘要： 目的 探讨大脑胶质瘤病的临床病理学特征。方法 对1例大脑胶质瘤病患者的临床表现、影像学、组织病理学和免疫组织化学特征进行回顾性分析, 并且复习相关文献。结果 男性患者，24 岁。临床表现为发作性黑蒙和发作时意识丧失性癫症状，以及随后出现的不能缓解的剧烈头痛。MRI显示左侧颞顶叶-基底节区弥散性不规则稍高信号，局灶信号不均匀，无明显占位效应；MRS 显示病灶区Cho/NAA 比值明显升高。手术切除部分左侧颞叶及海马组织，光学显微镜下观察肿瘤细胞呈轻至中等密度增生，弥漫性浸润；呈星形胶质细胞样形态，胞核为长梭形或纺锤形，染色质轻度深染；核分裂象罕见；未见微血管增生和坏死；肿瘤细胞排列形成明显的继发性结构，包括软脑膜下和室管膜下肿瘤细胞密集生长、血管周围肿瘤细胞聚集及神经元卫星现象等；灰质与白质分界不清，但神经元分布结构基本保留。免疫组织化学染色肿瘤细胞胶质纤维酸性蛋白和S-100蛋白表达阳性，少突胶质细胞系转录因子-2、突触素和神经元核抗原表达阴性；TP53 过表达，约8%；Ki-67 抗原标记指数约为10%。结论 大脑胶质瘤病为临床少见、可累及多个脑叶的弥漫浸润性肿瘤，影像学上无明显占位效应，MRI 和MRS 检查可提示诊断。肿瘤细胞弥漫性浸润并形成明显的继发性结构，需与多中心/多灶性胶质瘤和脱髓鞘病变等相鉴别。TP53和Ki-67抗原标记指数可资与非肿瘤性病变相鉴别。

关键词: 脑肿瘤, 神经胶质瘤, 病理学, 磁共振成像, 免疫组织化学