Spinal Cord Astrocytoma with Isocitrate Dehydrogenase 1 Gene Mutation
Spinal Cord Astrocytoma with Isocitrate Dehydrogenase 1 Gene Mutation
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DOI：
10.1016/j.wneu.2017.08.142
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发表时间：
2017-12-01
影响因子：
2
通讯作者：
Taniguchi, Makoto
中科院分区：
文献类型：
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作者：
Takai, Keisuke;Tanaka, Shota;Taniguchi, Makoto
背景技术背景：2016年，世界卫生组织更新了肿瘤分类，在传统的组织病理学分型中增加了遗传特征。病例描述：作者在此介绍了第一例44岁女性异柠檬酸脱氢酶突变型世界卫生组织II级弥漫性脊髓星形细胞瘤，根据组织病理学和遗传学结果诊断。结论：本病例强调了分子遗传学分析在脊髓髓内胶质瘤鉴别诊断中的重要作用。
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.