Khanna Gaurav, Pathak Pankaj, Suri Vaishali, Sharma Mehar Chand, Chaturvedi Sujata, Ahuja Arvind, Bhardwaj M, Garg Ajay, Sarkar Chitra, Sharma Rajeev
Department of Pathology, All India Institute of Medical Sciences (AIIMS), New Delhi 110029, India.
Department of Pathology, Institute of Human Behaviour and Allied Sciences, New Delhi, India.
Pathol Res Pract. 2018 May;214(5):679-685. doi: 10.1016/j.prp.2018.03.019. Epub 2018 Mar 22.
Epithelioid glioblastoma (e-gbm) is a recently described variant of glioblastoma (GBM) which is associated with short survival and now added as a provisional entity to WHO 2016 classification of CNStumors. About half of these tumors show characteristic BRAF-V600E mutation. However, unlike conventional GBMs, e-gbm lack specific diagnostic and prognostic markers. Hence, we aimed to molecularly characterize these tumors. An extensive review of literature was performed.In a multi-institutional effort, all the cases of glioblastoma of year 2017 were reviewed. Cases with predominant epithelioid morphology were analysed. Seven cases of e-gbm (adults:4 and pediatric: 3) were identified. Duration of symptoms varied from 2 weeks to one month. Radiologically, all cases were supratentorial, contrast enhancing with solid and cystic appearance. Majority of the cases were immunopositive for GFAP (71%), EMA (71%), S100 (71%) and vimentin (85%). All the cases showed ATRX, INI-1 and H3K27me3 expression. BRAFV600Emutation was seen in 28% of cases. TERT mutation was seen in 40% cases, while one case showed EGFR amplification. H3F3A mutations and PTEN deletions were seen in none. Although e-gbms are rare, epithelioid morphology of a CNS tumor in a young adult or children with areas of necrosis needs thorough histomorphological and genetic workup.
上皮样胶质母细胞瘤（e-gbm）是最近描述的胶质母细胞瘤（GBM）变体，与生存期短相关，现已作为临时实体添加到世界卫生组织2016年中枢神经系统肿瘤分类中。这些肿瘤中约一半显示特征性的BRAF-V600E突变。然而，与传统GBM不同，e-gbm缺乏特异性诊断和预后标志物。因此，我们旨在对这些肿瘤进行分子特征分析。我们对文献进行了广泛综述。在一项多机构研究中，对2017年所有胶质母细胞瘤病例进行了回顾。分析了以上皮样形态为主的病例。确定了7例e-gbm（成人：4例，儿童：3例）。症状持续时间从2周到1个月不等。放射学上，所有病例均位于幕上，呈实性和囊性外观的强化灶。大多数病例对GFAP（71%）、EMA（71%）、S100（71%）和波形蛋白（85%）免疫阳性。所有病例均显示ATRX、INI-1和H3K27me3表达。28%的病例检测到BRAFV600E突变。40%的病例检测到TERT突变，而1例显示EGFR扩增。未检测到H3F3A突变和PTEN缺失。尽管e-gbm很少见，但对于年轻成人或儿童中具有坏死区域的中枢神经系统肿瘤的上皮样形态，需要进行全面的组织形态学和遗传学检查。
