Suppr超能文献

具有少突胶质细胞瘤样成分的多灶性、中枢神经系统弥漫性星形细胞瘤伴间变性少突胶质细胞瘤,通过不同的遗传异常。

Metachronous, multicentric glioma of pilocytic astrocytoma with oligodendroglioma-like component and oligodendroglioma through distinct genetic aberrations.

机构信息

Department of Neurosurgery, Tohoku University Graduate School of Medicine, Sendai, Miyagi, Japan.

出版信息

J Neurosurg. 2013 Apr;118(4):854-8. doi: 10.3171/2012.9.JNS112353. Epub 2012 Oct 19.

Abstract

This patient presented with a rare case of metachronous, multicentric gliomas first manifesting as headache and nausea in 1983 when he was an 8-year-old boy. Computed tomography revealed a cerebellar tumor and the tumor was subtotally resected. The histological diagnosis was pilocytic astrocytoma, and radiation therapy to the posterior fossa and chemotherapy consisting of nimustine hydrochloride and fluorouracil were performed. In 1989, at age 14 years, the patient presented with local recurrence. He underwent gross-total resection of the tumor, and histological examination revealed that the tumor consisted of classic pilocytic astrocytoma with a biphasic pattern and a small oligodendroglioma-like component. In 2011, at age 36 years, he presented with seizure. Magnetic resonance imaging revealed a mass lesion in the right middle frontal gyrus. Gross-total resection of the tumor was performed, and the histological diagnosis was oligodendroglioma. Genetic analyses revealed amplification of the BRAF gene in both the primary cerebellar pilocytic astrocytoma and the recurrent tumor with biphasic features, as well as a BRAF V600E missense mutation in the oligodendroglioma-like component. On the other hand, the IDH1 R132H mutation, instead of aberrations of the BRAF gene, was identified in the oligodendroglioma arising in the right frontal lobe. Different types of aberrations of the BRAF gene in the classic and oligodendroglioma-like component in the recurrent pilocytic astrocytoma suggest that they had different cell origins or that amplification of BRAF was negatively selected under the de novo BRAF V600E mutation. In addition, the aberration profiles of IDH1 and BRAF suggest that the oligodendroglioma arose independent of cerebellar pilocytic astrocytoma.

摘要

这位患者出现了罕见的同时性、多中心神经胶质瘤,首次发病于 1983 年,当时他是一名 8 岁的男孩,表现为头痛和恶心。计算机断层扫描显示小脑肿瘤,肿瘤部分切除。组织学诊断为毛细胞星形细胞瘤,行颅后窝放疗和替莫唑胺联合氟尿嘧啶化疗。1989 年,患者 14 岁时肿瘤局部复发,行肿瘤全切除,组织学检查显示肿瘤由经典毛细胞星形细胞瘤伴双相型和小的少突胶质细胞瘤样成分组成。2011 年,患者 36 岁时出现癫痫,磁共振成像显示右额中回肿块病变,行肿瘤全切除,组织学诊断为少突胶质细胞瘤。基因分析显示原发性小脑毛细胞星形细胞瘤和具有双相特征的复发性肿瘤中 BRAF 基因扩增,以及少突胶质细胞瘤样成分中的 BRAF V600E 错义突变。另一方面,在右额叶起源的少突胶质细胞瘤中,IDH1 R132H 突变而不是 BRAF 基因异常。复发性毛细胞星形细胞瘤中经典型和少突胶质细胞瘤样成分中 BRAF 基因的不同类型异常提示它们具有不同的细胞起源,或者 BRAF 扩增在新发生的 BRAF V600E 突变下被负选择。此外,IDH1 和 BRAF 的异常谱表明少突胶质细胞瘤独立于小脑毛细胞星形细胞瘤发生。

文献AI研究员

20分钟写一篇综述,助力文献阅读效率提升50倍。

立即体验

用中文搜PubMed

大模型驱动的PubMed中文搜索引擎

马上搜索

文档翻译

学术文献翻译模型,支持多种主流文档格式。

立即体验