• 主题
高级搜索  >
历史搜索 清空历史
首页> 外文期刊>Neuropathology: official journal of the Japanese Society of Neuropathology >Cerebral and spinal cord tanycytic ependymomas in a young adult with a mutation in the NF2 gene
【24h】

Cerebral and spinal cord tanycytic ependymomas in a young adult with a mutation in the NF2 gene

机译：NF2基因突变的年轻成年人的脑和脊髓单核细胞室间隔膜瘤

获取原文
获取原文并翻译 | 示例
           
页面导航
  • 摘要
  • 著录项
  • 相似文献
  • 相关主题

摘要

We studied one frontal lobe tumor and multiple spinal cord tumors (one in an extramedullary location) that had been resected from a 24-year-old man. The frontal lobe tumor was well demarcated and non-infiltrating, and consisted of eosinophilic, elongated fibrillary cells arranged in a fascicular pattern. A similar histology was reproduced in the spinal cord tumors, with additional areas showing standard features of ependymoma. Immunohistochemical and ultrastructural observations revealed that all the tumors were ependymal in nature with positivity for GFAP and epithelial membrane antigen and negativity for oligodendrocyte transcription factor 2, showing intra-and intercellular microrosettes, leading us to a diagnosis of tanycytic ependymoma for the frontal lobe tumor and tanycytic ependymoma with ordinary ependymomatous component for the spinal cord tumors. The spinal extramedullary tumor was a schwannoma. Importantly, a heterozygous truncating mutation in the NF2 gene was identified in the blood lymphocytes from the patient. It is known that multiple nervous system tumors can occur in neurofibromatosis type 2 (NF2), which is caused by mutation in the NF2 gene, and that occurrence of ependymoma, including the tanycytic variant, can be associated with this genetic condition. The present case provides further information about the clinicopathology of tanycytic ependymoma with details of the immunohistochemical, ultrastructural and genetic features.
机译：我们研究了一个从24岁男子切除的额叶肿瘤和多个脊髓肿瘤（一个在髓外位置）。额叶肿瘤被很好地分界并且不浸润，并且由呈束状排列的嗜酸性，细长的原纤维细胞组成。脊髓肿瘤中复制了相似的组织学，其他区域显示了室间隔膜瘤的标准特征。免疫组织化学和超微结构观察显示，所有肿瘤本质上都是室管膜上皮细胞，对GFAP和上皮膜抗原呈阳性，对少突胶质细胞转录因子2呈阴性，表现出细胞内和细胞间微红斑​​，导致我们诊断为额叶肿瘤和单核细胞性室管膜增生症。具有普通室管膜成分的单核细胞性室间隔膜瘤，用于脊髓肿瘤。脊髓髓外肿瘤是神经鞘瘤。重要的是，在来自患者的血淋巴细胞中鉴定出了NF2基因的杂合性截短突变。众所周知，多发性神经系统肿瘤可能发生在2型神经纤维瘤病（NF2）中，这是由NF2基因突变引起的，而室管膜瘤的发生，包括单核细胞变体，可能与这种遗传状况有关。本病例提供了有关单核细胞室间隔膜瘤临床病理的更多信息，并提供了免疫组织化学，超微结构和遗传学特征的详细信息。

著录项

相似文献

  • 外文文献
  • 中文文献
  • 专利
获取原文

客服邮箱：kefu@zhangqiaokeyan.com

京公网安备：11010802029741号 ICP备案号：京ICP备15016152号-6 六维联合信息科技 (北京) 有限公司©版权所有

  • 客服微信

  • 服务号