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多发脊髓内室管膜瘤:病例报告及文献复习。

Multiple primary intramedullary ependymomas: a case report and review of the literature.

机构信息

Department of Neurosurgery, Johns Hopkins Hospital, Johns Hopkins University School of Medicine, Meyer Building, 600 N. Wolfe St, Baltimore, MD 21205, USA; Spinal Biomechanics and Surgical Outcomes Laboratory, Johns Hopkins Hospital, Johns Hopkins University School of Medicine, Meyer Building, 600 N. Wolfe St, Baltimore, MD 21205, USA.

出版信息

Spine J. 2013 Oct;13(10):1379-86. doi: 10.1016/j.spinee.2013.06.037. Epub 2013 Aug 27.

DOI:10.1016/j.spinee.2013.06.037
PMID:23988460
Abstract

BACKGROUND CONTEXT

Intramedullary ependymomas constitute the most frequent type of intramedullary tumor. In patients with neurofibromatosis type 2 (NF2), multiple intramedullary ependymomas are known to occur. In the non-NF2 population, however, the presence of multiple synchronous intramedullary ependymomas is exceedingly rare.

PURPOSE

In this article, the authors report the second case in the literature of multiple primary synchronous intramedullary ependymomas. To the best of the authors knowledge, this report represents the first to provide a detailed pathology of all lesions, thereby giving an added level of confidence on the primary synchronous nature of the lesions. The authors have also performed a review of the literature regarding multifocal intramedullary ependymomas.

STUDY DESIGN

A review article and case report.

CONCLUSIONS

The concomitant localization of two primary intramedullary spinal cord ependymomas in the setting of nongenetic predisposition is an uncommon phenomenon. In this article, the authors present the second report of multiple, synchronous intramedullary ependymomas. A detailed review of the literature reveals that the presence of multiple intramedullary lesions in non-NF2 patients is both rare and deserving of further study.

摘要

背景

脊髓髓内室管膜瘤是最常见的脊髓内肿瘤类型。在神经纤维瘤病 2 型(NF2)患者中,已知会发生多个脊髓髓内室管膜瘤。然而,在非 NF2 人群中,同时发生多个脊髓髓内室管膜瘤极为罕见。

目的

本文报道了文献中第二例多发性原发性脊髓髓内室管膜瘤。据作者所知,这是首例提供所有病变详细病理学的报告,从而对病变的原发性同步性质增加了一定程度的信心。作者还对多灶性脊髓髓内室管膜瘤的文献进行了回顾。

研究设计

综述文章和病例报告。

结论

在非遗传倾向的情况下,两个原发性脊髓髓内室管膜瘤的同时定位是一种罕见现象。本文报道了第二例多发性、同步性脊髓髓内室管膜瘤。对文献的详细回顾表明,非 NF2 患者中存在多个脊髓内病变不仅罕见,而且值得进一步研究。

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Spine J. 2013 Oct;13(10):1379-86. doi: 10.1016/j.spinee.2013.06.037. Epub 2013 Aug 27.
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Spinal ependymomas in neurofibromatosis Type 2: a retrospective analysis of 55 patients.神经纤维瘤病 2 型的脊髓室管膜瘤:55 例回顾性分析。
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引用本文的文献

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J Neurosurg Case Lessons. 2025 Sep 15;10(11). doi: 10.3171/CASE25459.
2
A Comprehensive Review of Pediatric Tumors and Associated Cancer Predisposition Syndromes.儿科肿瘤及相关癌症易感性综合征综合综述
J Genet Couns. 2017 Jun;26(3):387-434. doi: 10.1007/s10897-017-0077-8. Epub 2017 Mar 29.
3
Role of Merlin/NF2 inactivation in tumor biology.
默林蛋白/神经纤维瘤病2型基因失活在肿瘤生物学中的作用
Oncogene. 2016 Feb 4;35(5):537-48. doi: 10.1038/onc.2015.125. Epub 2015 Apr 20.