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改变/22号染色体缺失与世界卫生组织1级蝶骨嵴脑膜瘤的复发相关。

Alteration/22q Loss Is Associated with Recurrence in WHO Grade 1 Sphenoid Wing Meningiomas.

作者信息

Sakai Yu, Miyawaki Satoru, Teranishi Yu, Okano Atsushi, Ohara Kenta, Hongo Hiroki, Ishigami Daiichiro, Shimada Daisuke, Mitsui Jun, Nakatomi Hirofumi, Saito Nobuhito

机构信息

Departments of Neurosurgery, Faculty of Medicine, The University of Tokyo, Tokyo 113-8655, Japan.

Department of Neurosurgery, Faculty of Medicine, Kyorin University, Tokyo 113-8655, Japan.

出版信息

Cancers (Basel). 2022 Jun 29;14(13):3183. doi: 10.3390/cancers14133183.

Abstract

Sphenoid wing meningiomas account for 11−20% of all intracranial meningiomas and have a higher recurrence rate than those at other sites. Recent molecular biological analyses of meningiomas have proposed new subgroups; however, the correlation between genetic background and recurrence in sphenoid wing meningiomas has not yet been fully elucidated. In this study, we evaluated the clinical characteristics, pathological diagnosis, and molecular background of 47 patients with sphenoid wing meningiomas. Variants of NF2, AKT1, KLF4, SMO, POLR2A, PIK3CA, TRAF7, and TERT were determined using Sanger sequencing, and 22q loss was detected using multiplex ligation-dependent probe amplification. Alterations were localized at NF2 in 11 cases, had other genotypes in 17 cases, and were not detected in 12 cases. Interestingly, WHO grade 1 meningiomas with NF2 alteration/22q loss (p = 0.008) and a MIB-1 labeling index > 4 (p = 0.03) were associated with a significantly shorter recurrence-free survival, and multivariate analysis revealed that NF2 alteration/22q loss was associated with recurrence (hazard ratio, 13.1). The duration of recurrence was significantly shorter for meningiomas with NF2 alteration/22q loss (p = 0.0007) even if gross-total resection was achieved. Together, these findings suggest that NF2 alteration/22q loss is associated with recurrence in WHO grade 1 sphenoid wing meningiomas.

摘要

蝶骨嵴脑膜瘤占所有颅内脑膜瘤的11%-20%,其复发率高于其他部位的脑膜瘤。最近对脑膜瘤的分子生物学分析提出了新的亚组;然而,蝶骨嵴脑膜瘤的遗传背景与复发之间的相关性尚未完全阐明。在本研究中,我们评估了47例蝶骨嵴脑膜瘤患者的临床特征、病理诊断和分子背景。使用桑格测序法确定NF2、AKT1、KLF4、SMO、POLR2A、PIK3CA、TRAF7和TERT的变异,并使用多重连接依赖探针扩增法检测22q缺失。11例患者的改变定位于NF2,17例患者具有其他基因型,12例患者未检测到改变。有趣的是,伴有NF2改变/22q缺失(p = 0.008)和MIB-1标记指数>4(p = 0.03)的世界卫生组织1级脑膜瘤与无复发生存期显著缩短相关,多变量分析显示NF2改变/22q缺失与复发相关(风险比,13.1)。即使实现了全切除,伴有NF2改变/22q缺失的脑膜瘤的复发持续时间也显著缩短(p = 0.0007)。总之,这些发现表明NF2改变/22q缺失与世界卫生组织1级蝶骨嵴脑膜瘤的复发相关。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9d45/9265038/3d3c418940b6/cancers-14-03183-g001.jpg

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