Suppr超能文献

[散发性家族性脑膜瘤]

[Sporadic familial meningiomas].

作者信息

Medrano-Martínez V, Moltó-Jordà J M, Sánchez-Pérez R M, Castaño-Pérez M D, Arenas J, Beltrán-Blasco I

机构信息

Servicio de Neurología, Hospital General Universitario de Alicante, España.

出版信息

Rev Neurol. 2000;31(5):433-5.

Abstract

INTRODUCTION

Meningiomas are primary tumours of the central nervous system. Usually they are sporadic. The occurrence in more than one member of a family is unusual. Up till now this coincidence had been related with type 2 neurofibromatosis. In this paper we comment on two siblings who did not fulfil neurofibromatosis diagnostic criteria as an example of sporadic familial meningiomas.

CLINICAL CASES

Two siblings (a 79 years old female and a 77 years old male) were diagnosed of a meningioma in an interval of two years, with surprising clinical and neuroimaging similarities. In sporadic meningiomas, abnormalities in the long arm of chromosome 22 have been found. Type 2 neurofibromatosis causative gene has also been found in this chromosome. Meningiomas are quite often found in this entity, and therefore, this gene was implicated as a main factor in the genesis of an important number of meningiomas. However, several studies have not found an association between these tumours and the locus for neurofibromatosis, leading to think that there may be other genes that may influence on meningiomas development.

摘要

引言

脑膜瘤是中枢神经系统的原发性肿瘤。通常为散发性。在一个家族的多名成员中发生较为罕见。迄今为止,这种情况一直与2型神经纤维瘤病有关。在本文中,我们以两名不符合神经纤维瘤病诊断标准的兄弟姐妹为例,探讨散发性家族性脑膜瘤。

临床病例

两名兄弟姐妹(一名79岁女性和一名77岁男性)在两年内先后被诊断出患有脑膜瘤,其临床症状和神经影像学表现惊人地相似。在散发性脑膜瘤中,已发现22号染色体长臂存在异常。在该染色体上也发现了2型神经纤维瘤病致病基因。在这个疾病实体中经常发现脑膜瘤,因此,该基因被认为是大量脑膜瘤发生的主要因素。然而,多项研究并未发现这些肿瘤与神经纤维瘤病基因座之间存在关联,这使得人们认为可能还有其他基因会影响脑膜瘤的发生发展。

文献检索

告别复杂PubMed语法,用中文像聊天一样搜索,搜遍4000万医学文献。AI智能推荐,让科研检索更轻松。

立即免费搜索

文件翻译

保留排版,准确专业,支持PDF/Word/PPT等文件格式,支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述,25分钟生成高质量综述,智能提取关键信息,辅助科研写作。

立即免费体验