Suppr超能文献

同一半球内出现的多发性脑膜瘤与李-弗劳梅尼综合征相关。

Multiple meningiomas arising within the same hemisphere associated with Li-Fraumeni syndrome.

作者信息

Hong Christopher S, Erson-Omay E Zeynep, Moliterno Jennifer

机构信息

Department of Neurosurgery, Yale University School of Medicine, 20 York Street, LCI 8, New Haven, Connecticut, United States.

出版信息

Surg Neurol Int. 2021 Mar 17;12:99. doi: 10.25259/SNI_125_2019. eCollection 2021.

Abstract

BACKGROUND

While meningiomas are some of the most common intracranial tumors, the presence of multiple ones at the time of presentation is rare and can most commonly be observed in patients with well-described syndromes (i.e., neurofibromatosis type 2) or those with prior cranial radiation history. In others, however, the pathophysiology remains unclear.

CASE DESCRIPTION

A 49-year-old female with no significant personal or familial oncologic medical history presented with a generalized seizure and was found to have ten meningiomas arising within the right hemisphere. She underwent a two-staged resection of all tumors, with pathology revealing the World Health Organization Grade I meningioma. Whole-exome sequencing revealed somatic mutations and heterozygous deletion of chromosome 22 overlapping with , and analysis of the germline uncovered mutations of , rendering a diagnosis of Li-Fraumeni Syndrome.

CONCLUSIONS

This case represents a novel presentation of multiple meningiomas in a patient with newly diagnosed Li-Fraumeni syndrome, suggesting meningioma may be considered as part of this tumor-predisposed patient population.

摘要

背景

虽然脑膜瘤是最常见的颅内肿瘤之一,但初诊时出现多个脑膜瘤的情况很少见,最常见于患有明确综合征(如2型神经纤维瘤病)的患者或有既往颅脑放疗史的患者。然而,在其他患者中,其病理生理学仍不清楚。

病例描述

一名49岁女性,无明显个人或家族肿瘤病史,出现全身性癫痫发作,经检查发现右侧半球有10个脑膜瘤。她接受了所有肿瘤的两阶段切除手术,病理显示为世界卫生组织I级脑膜瘤。全外显子测序显示存在体细胞突变以及与22号染色体杂合缺失重叠,对种系的分析发现了 的突变,从而诊断为李-弗劳梅尼综合征。

结论

该病例代表了新诊断的李-弗劳梅尼综合征患者出现多个脑膜瘤的新情况,提示脑膜瘤可能被视为这一易患肿瘤患者群体的一部分。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/1a4a/8053471/76cd93cf2790/SNI-12-99-g001.jpg

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