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具有横纹肌样特征的胶质母细胞瘤:两例年轻成人病例报告及文献复习

Glioblastoma with Rhabdoid Features: Report of Two Young Adult Cases and Review of the Literature.

作者信息

Miyahara Makiko, Nobusawa Sumihito, Inoue Masato, Okamoto Kouichiro, Mochizuki Makoto, Hara Tetsuo

机构信息

Department of Neurosurgery, National Center for Global Health and Medicine, Tokyo, Japan; Advanced and Specialized Medicine, Juntendo University Graduate School of Medicine, Tokyo, Japan.

Department of Human Pathology, Gunma University Graduate School of Medicine, Maebashi, Gunma, Japan.

出版信息

World Neurosurg. 2016 Feb;86:515.e1-9. doi: 10.1016/j.wneu.2015.10.065. Epub 2015 Nov 5.

DOI:10.1016/j.wneu.2015.10.065
PMID:26548829
Abstract

BACKGROUND

There are few previous reports of glioblastoma in young adults, in particular, of the very rare recently proposed rhabdoid or epithelioid types.

CASE DESCRIPTION

We report 2 cases of glioblastoma with rhabdoid features involving a 27-year-old woman and a 41-year-old man. In case 1, the patient presented with generalized seizures, and the initial magnetic resonance imaging showed a very small region of contrast in the left parahippocampal area. After 1 year, the mass suddenly increased in size. Treatment with multiple therapies was administered, but 5 months later, the patient died from multiple systemic metastases. In case 2, the patient presented with a chief complaint of headache for a few weeks. Computed tomography and magnetic resonance imaging showed a left parietal mass with calcification and meningeal dissemination. After undergoing surgical removal, his condition rapidly deteriorated until brain death occurred.

CONCLUSIONS

Glioblastoma with rhabdoid features may represent a specific pattern of clinical progression that emerges from histologic glioblastoma types.

摘要

背景

以往关于年轻成人胶质母细胞瘤的报道较少,尤其是关于最近提出的非常罕见的横纹肌样或上皮样类型。

病例描述

我们报告2例具有横纹肌样特征的胶质母细胞瘤病例,分别为一名27岁女性和一名41岁男性。病例1中,患者出现全身性癫痫发作,最初的磁共振成像显示左侧海马旁区域有一个非常小的强化区域。1年后,肿块大小突然增加。采用多种治疗方法,但5个月后,患者死于多处全身转移。病例2中,患者以头痛为主诉持续数周。计算机断层扫描和磁共振成像显示左侧顶叶肿块伴钙化和脑膜播散。手术切除后,其病情迅速恶化直至脑死亡。

结论

具有横纹肌样特征的胶质母细胞瘤可能代表一种从组织学胶质母细胞瘤类型中出现的特定临床进展模式。

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Glioblastoma with Rhabdoid Features: Report of Two Young Adult Cases and Review of the Literature.具有横纹肌样特征的胶质母细胞瘤:两例年轻成人病例报告及文献复习
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Epithelioid glioblastoma exhibits a heterogeneous molecular feature: A targeted next-generation sequencing study.上皮样胶质母细胞瘤呈现出异质性分子特征:一项靶向二代测序研究。
Front Oncol. 2022 Nov 24;12:980059. doi: 10.3389/fonc.2022.980059. eCollection 2022.
2
Evaluation of EZH2 expression, BRAF V600E mutation, and CDKN2A/B deletions in epithelioid glioblastoma and anaplastic pleomorphic xanthoastrocytoma.评估上皮样胶质母细胞瘤和间变性多形性黄色星形细胞瘤中的 EZH2 表达、BRAF V600E 突变和 CDKN2A/B 缺失。
J Neurooncol. 2019 Aug;144(1):137-146. doi: 10.1007/s11060-019-03212-0. Epub 2019 Jun 18.
3
BRAF V600E, TERT promoter mutations and CDKN2A/B homozygous deletions are frequent in epithelioid glioblastomas: a histological and molecular analysis focusing on intratumoral heterogeneity.
BRAF V600E、TERT 启动子突变和 CDKN2A/B 纯合缺失在上皮样胶质母细胞瘤中很常见:一项聚焦于肿瘤内异质性的组织学和分子分析。
Brain Pathol. 2018 Sep;28(5):663-673. doi: 10.1111/bpa.12572. Epub 2017 Dec 5.