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胶质肿瘤 1p 和 19q 状态的荧光原位杂交分析

Fluorescence in situ hybridization for 1p, 19q status in a cohort of glial neoplasms.

机构信息

Section of Neuropathology, Departments of Neurological Sciences and Pathology, Section of Neurosurgery, Christian Medical College, Vellore, Tamil Nadu, India.

出版信息

Neurol India. 2014 Jan-Feb;62(1):32-6. doi: 10.4103/0028-3886.128275.

Abstract

OBJECTIVE

The objective of the following study is to determine 1p, 19q status in a cohort of glial neoplasms. materials and methods: Fluorescence in situ hybridization for determination of 1p, 19q deletions in 100 glial neoplasms diagnosed between January 2007 and March 2011, was performed using Vysis dual color probes localizing to 1p36/1q25; 19q13/19p13.

RESULTS

Out of the 100 tumors, 78 tumors were either pure oligodendroglial (OD) neoplasms or had an OD component. 1p and 19q codeletions were seen in 72.7% of oligodendrogliomas (World Health Organization [WHO] Grade II), 90.9% of anaplastic oligodendrogliomas (WHO Grade III), 22.2% of mixed oligoastrocytomas (WHO Grade II) and 42.9% of the anaplastic oligoastrocytomas (WHO Grade III). Of the 29 tumors that were diagnosed as glioblastoma multiforme (GBM), 11 had an OD component of which four showed codeletions of 1p and 19q (36.4%) and two tumors showed epidermal growth factor receptor (EGFR) amplification (20%) without 1p19q codeletions. Amongst the remaining 18 GBMs without an OD component, three cases showed EGFR amplification (16.7%), one case showed isolated deletion of 1p and none showed 1p19q codeletions. Polysomies involving 1p and/or 19q with or without deletions were seen in 76.9% of mixed oligoastrocytic tumors, 7.7% of pure OD tumors and one glioblastoma.

CONCLUSIONS

1p19q codeletion is an early molecular change in the genesis of OD tumors, which is retained at the time of progression. Mixed tumors more frequently show polysomies of 1p and 19q. The presence of codeletion in a third of the GBMs with an OD component with its absence in GBMs without an OD component, justifies categorization of these tumors as a separate entity.

摘要

目的

本研究旨在确定胶质肿瘤中 1p 和 19q 的状态。

材料与方法

2007 年 1 月至 2011 年 3 月期间诊断的 100 例胶质肿瘤进行荧光原位杂交以确定 1p 和 19q 的缺失,使用 Vysis 双探针定位于 1p36/1q25;19q13/19p13。

结果

100 例肿瘤中,78 例为单纯少突胶质细胞瘤(OD)或有 OD 成分。在 72.7%的少突胶质细胞瘤(世界卫生组织[WHO]Ⅱ级)、90.9%的间变性少突胶质细胞瘤(WHO Ⅲ级)、22.2%的混合性少突星形细胞瘤(WHO Ⅱ级)和 42.9%的间变性少突星形细胞瘤(WHO Ⅲ级)中可见 1p 和 19q 缺失。在 29 例诊断为胶质母细胞瘤(GBM)的肿瘤中,有 11 例有 OD 成分,其中 4 例显示 1p 和 19q 缺失(36.4%),2 例显示表皮生长因子受体(EGFR)扩增(20%)而无 1p19q 缺失。在其余 18 例无 OD 成分的 GBM 中,有 3 例 EGFR 扩增(16.7%),1 例单纯 1p 缺失,无 1p19q 缺失。76.9%的混合性少突星形细胞瘤、7.7%的单纯 OD 肿瘤和 1 例 GBM 存在 1p 和/或 19q 三体,伴有或不伴有缺失。1p19q 缺失是 OD 肿瘤发生的早期分子变化,在进展时保留。混合性肿瘤更常出现 1p 和 19q 的三体。在有 OD 成分的 GBM 中约三分之一存在缺失,而无 OD 成分的 GBM 不存在缺失,这证明将这些肿瘤归类为一个单独的实体是合理的。

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