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脊索样脑膜瘤的染色体畸变——一项分析

Chromosomal aberrations in chordoid meningioma - An analysis.

作者信息

Sugur Harsha, Shastry Arun H, Sadashiva Nishant, Srinivas Dwarakanath, Santosh Vani, Somanna Sampath

机构信息

Department of Neuropathology, National Institute of Mental Health and Neuroscience, Bengaluru, Karnataka, India.

Department of Clinical Neuroscience, National Institute of Mental Health and Neuroscience, Bengaluru, Karnataka, India.

出版信息

Neurol India. 2018 Jan-Feb;66(1):156-160. doi: 10.4103/0028-3886.222808.

Abstract

INTRODUCTION

Chordoid meningiomas (CMs) are a rare subgroup of tumors, accounting for approximately 0.5% of all meningiomas. These tumors correspond to World Health Organization (WHO) Grade II lesions and behave aggressively, with an increased likelihood of recurrence. There are only two studies that have described the genetic alterations in CMs. While a majority of meningiomas are known to have deletion at many chromosomal loci such as 22q, 18p, 14q, and 1p, which are found to be associated with initiation, progression, and malignancy of these tumors, these have not yet been studied in CMs. Thus, our aim was to evaluate the status of these four chromosomal aberrations in CMs and correlate the findings with the clinical outcome of patients.

MATERIALS AND METHODS

A total of 15 cases of CM operated over a period of 12 years from 2001 to 2013 were analyzed. The archival paraffin blocks were retrieved and sections were subjected to locus-specific fluorescent in situ hybridization (FISH) using 22q12.2, 18p11.3, 14q32.2, and 1p32.3 probes. Immunohistochemistry (IHC) was done on all cases using MIB-1, vimentin, glial fibrillary acidic protein (GFAP), and epithelial membrane antigen (EMA) antibodies.

RESULTS

All cases had characteristic features of CM, and were positive for EMA and vimentin and negative for GFAP. The mean labeling index for MIB-1 was 2.7 ± 0.8%. Of the 15 cases, 5 cases showed recurrence with a median follow-up period of 28 months. Patients who underwent Simpson's grade I excision did not show any relapse of the tumor. Of the 5 recurrent cases, 4 had complete deletion of all four chromosomal loci. Among the 10 nonrecurrent cases, 9 (90%) showed either partial deletion or an intact status.

CONCLUSIONS

This is the first study to evaluate the combined chromosomal status of 22q, 18p, 14q, and 1p in CMs. Our study shows that there was a higher propensity of recurrence in tumors, even with complete excision, with complete deletion in all four chromosomal loci.

摘要

引言

脊索样脑膜瘤(CMs)是一种罕见的肿瘤亚群,约占所有脑膜瘤的0.5%。这些肿瘤属于世界卫生组织(WHO)二级病变,具有侵袭性,复发可能性增加。仅有两项研究描述了CMs中的基因改变。虽然已知大多数脑膜瘤在许多染色体位点如22q、18p、14q和1p存在缺失,这些缺失与这些肿瘤的发生、进展和恶性程度相关,但尚未在CMs中进行研究。因此,我们的目的是评估CMs中这四种染色体畸变的状态,并将结果与患者的临床结局相关联。

材料与方法

分析了2001年至2013年12年间手术的15例CMs病例。检索存档的石蜡块,切片使用22q12.2、18p11.3、14q32.2和1p32.3探针进行位点特异性荧光原位杂交(FISH)。对所有病例使用MIB-1、波形蛋白、胶质纤维酸性蛋白(GFAP)和上皮膜抗原(EMA)抗体进行免疫组织化学(IHC)检测。

结果

所有病例均具有CM的特征性表现,EMA和波形蛋白呈阳性,GFAP呈阴性。MIB-1的平均标记指数为2.7±0.8%。15例病例中,5例出现复发,中位随访期为28个月。接受辛普森一级切除的患者未出现肿瘤复发。在5例复发病例中,4例所有四个染色体位点均完全缺失。在10例未复发病例中,9例(90%)显示部分缺失或状态完整。

结论

这是第一项评估CMs中22q、18p、14q和1p联合染色体状态的研究。我们的研究表明,即使肿瘤完全切除,所有四个染色体位点均完全缺失时,复发倾向更高。

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