伴有异柠檬酸脱氢酶1基因突变的脊髓星形细胞瘤
Spinal Cord Astrocytoma with Isocitrate Dehydrogenase 1 Gene Mutation.
作者信息
Takai Keisuke, Tanaka Shota, Sota Takashi, Mukasa Akitake, Komori Takashi, Taniguchi Makoto
机构信息
Department of Neurosurgery, Tokyo Metropolitan Neurological Hospital, Tokyo, Japan.
Department of Neurosurgery, University of Tokyo Hospital, Tokyo, Japan.
出版信息
World Neurosurg. 2017 Dec;108:991.e13-991.e16. doi: 10.1016/j.wneu.2017.08.142. Epub 2017 Sep 1.
BACKGROUND
In 2016, the World Health Organization updated its classification of tumors, adding genetic profiles to the conventional histopathologic typing.
CASE DESCRIPTION
The authors present herein the first case of a 44-year-old female with isocitrate dehydrogenase-mutant World Health Organization grade II diffuse spinal astrocytoma diagnosed on the basis of both histopathologic and genetic findings.
CONCLUSIONS
The present case underscores the significant role of a molecular genetic analysis in the differential diagnosis of intramedullary spinal gliomas.
背景
2016年，世界卫生组织更新了肿瘤分类，在传统组织病理学分型的基础上增加了基因图谱。
病例描述
作者在此报告首例44岁女性患者，根据组织病理学和基因检测结果诊断为异柠檬酸脱氢酶突变型世界卫生组织二级弥漫性脊髓星形细胞瘤。
结论
本病例强调了分子基因分析在脊髓髓内胶质瘤鉴别诊断中的重要作用。
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