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一例罕见的伴有神经节细胞分化的 31 岁男性少突胶质细胞瘤:IDH1/2 基因检测的重要性。

A rare case of oligodendroglioma with gangliocytic differentiation in a 31-year-old male: importance of genetic testing for IDH1/2.

机构信息

Department of Pathology, Gangnam Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.

Department of Neurosurgery, Severance Hospital, Yonsei University College of Medicine, Seoul, Republic of Korea.

出版信息

Brain Tumor Pathol. 2020 Jul;37(3):95-99. doi: 10.1007/s10014-020-00368-w. Epub 2020 Jun 5.

DOI:10.1007/s10014-020-00368-w
PMID:32504153
Abstract

We report a rare case of oligodendroglioma with gangliocytic differentiation. A 31-year-old male without a past medical history was admitted with a sudden seizure. On magnetic resonance imaging, an approximately 7-cm mass with necrosis was noted in the right frontal lobe. The patient underwent surgical resection. On microscopy, two morphologically distinct areas with oligodendroglioma- and ganglioglioma-like features were found. Immunohistochemistry showed an absence of CD34 expression, whereas isocitrate dehydrogenase 1 (IDH1) was positive in the glial component. Moreover, IDH1 was positive in the ganglion-like cells as well as in the glial component. Subsequent 1p/19q co-deletion was confirmed by fluorescence in situ hybridization. Finally, a diagnosis of oligodendroglioma with gangliocytic differentiation was made. IDH1/2 molecular test would be basic and essential diagnostic tool in central nervous system tumor of young patients.

摘要

我们报告一例罕见的伴神经节细胞分化的少突胶质细胞瘤。一名 31 岁男性,无既往病史,因突发癫痫入院。磁共振成像显示右额叶有一个大约 7cm 大小的伴有坏死的肿块。患者接受了手术切除。显微镜下发现两个形态截然不同的区域,具有少突胶质细胞瘤和神经节胶质瘤样特征。免疫组织化学显示 CD34 表达缺失,而胶质成分中异柠檬酸脱氢酶 1(IDH1)阳性。此外,神经节样细胞和胶质成分中 IDH1 均为阳性。随后通过荧光原位杂交证实了 1p/19q 共缺失。最终诊断为伴神经节细胞分化的少突胶质细胞瘤。IDH1/2 分子检测将成为年轻患者中枢神经系统肿瘤的基本和必要的诊断工具。

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