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Tandem duplication producing a novel oncogenic BRAF fusion gene defines the majority of pilocytic astrocytomas.串联重复产生一种新的致癌性BRAF融合基因,这在大多数毛细胞型星形细胞瘤中都有体现。
Cancer Res. 2008 Nov 1;68(21):8673-7. doi: 10.1158/0008-5472.CAN-08-2097.
2
Comprehensive genomic characterization defines human glioblastoma genes and core pathways.全面的基因组特征分析确定了人类胶质母细胞瘤的基因和核心通路。
Nature. 2008 Oct 23;455(7216):1061-8. doi: 10.1038/nature07385. Epub 2008 Sep 4.
3
An integrated genomic analysis of human glioblastoma multiforme.多形性胶质母细胞瘤的综合基因组分析
Science. 2008 Sep 26;321(5897):1807-12. doi: 10.1126/science.1164382. Epub 2008 Sep 4.
4
Frequent gains at chromosome 7q34 involving BRAF in pilocytic astrocytoma.在毛细胞型星形细胞瘤中,7号染色体长臂34区(7q34)常出现涉及BRAF基因的增益。
J Neuropathol Exp Neurol. 2008 Sep;67(9):878-87. doi: 10.1097/NEN.0b013e3181845622.
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Gene amplification is a poor prognostic factor in anaplastic oligodendrogliomas.基因扩增在间变性少突胶质细胞瘤中是一个不良预后因素。
Neuro Oncol. 2008 Aug;10(4):540-7. doi: 10.1215/15228517-2008-022. Epub 2008 Jun 10.
6
High-resolution, dual-platform aCGH analysis reveals frequent HIPK2 amplification and increased expression in pilocytic astrocytomas.高分辨率双平台阵列比较基因组杂交分析显示,毛细胞型星形细胞瘤中频繁出现HIPK2基因扩增且表达增加。
Oncogene. 2008 Aug 7;27(34):4745-51. doi: 10.1038/onc.2008.110. Epub 2008 Apr 14.
7
BRAF gene duplication constitutes a mechanism of MAPK pathway activation in low-grade astrocytomas.BRAF基因复制是低级别星形细胞瘤中MAPK信号通路激活的一种机制。
J Clin Invest. 2008 May;118(5):1739-49. doi: 10.1172/JCI33656.
8
Chromosome 1p loss evaluation in anaplastic oligodendrogliomas.间变性少突胶质细胞瘤中1号染色体短臂缺失的评估
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9
Assessing the significance of chromosomal aberrations in cancer: methodology and application to glioma.评估癌症中染色体畸变的意义:方法及在胶质瘤中的应用
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10
BAC array CGH distinguishes mutually exclusive alterations that define clinicogenetic subtypes of gliomas.BAC阵列比较基因组杂交技术可区分相互排斥的改变,这些改变定义了胶质瘤的临床遗传亚型。
Int J Cancer. 2008 Apr 15;122(8):1778-86. doi: 10.1002/ijc.23270.

基于阵列的基因组学在神经胶质瘤研究中的应用。

Array-based genomics in glioma research.

机构信息

INSERM, Unité 711, Paris, France.

出版信息

Brain Pathol. 2010 Jan;20(1):28-38. doi: 10.1111/j.1750-3639.2009.00274.x. Epub 2009 Mar 3.

DOI:10.1111/j.1750-3639.2009.00274.x
PMID:19298630
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8094671/
Abstract

Over the years, several relevant biomarkers with a potential clinical interest have been identified in gliomas using various techniques, such as karyotype, microsatellite analysis, fluorescent in situ hybridization and chromosome comparative genomic hybridization. Despite their pivotal contribution to our understanding of gliomas biology, clinical application of these approaches has been limited by technological and clinical complexities. In contrast, genomic arrays (array-based comparative genomic hybridization and single nucleotide polymorphisms array) have emerged as promising technologies for clinical use in the setting of gliomas. Indeed, their feasibility and reliability have been rigorously assessed in gliomas and are discussed in this review. The well-known genomic biomarkers in gliomas are in fact readily and reliably identified using genomic arrays. Moreover, it detects a multitude of new cryptic genomic markers, with potential biological and/or clinical significances. The main studies dedicated to genomic characterization of gliomas using genomic arrays are reviewed here. Interestingly, several recurrent genomic signatures have been reported by different teams, suggesting the validity of these genomic patterns. In light of this, genomic arrays are relatively simple and cost-effective techniques whose implementation in molecular diagnostic laboratories should be encouraged as a valuable clinical tool for management of glioma patients.

摘要

多年来,使用各种技术(如核型分析、微卫星分析、荧光原位杂交和染色体比较基因组杂交)在神经胶质瘤中已经确定了几个具有潜在临床意义的相关生物标志物。尽管这些生物标志物对我们了解神经胶质瘤的生物学具有重要贡献,但由于技术和临床的复杂性,这些方法的临床应用受到了限制。相比之下,基因组芯片(基于阵列的比较基因组杂交和单核苷酸多态性芯片)已成为神经胶质瘤临床应用的有前途的技术。事实上,它们在神经胶质瘤中的可行性和可靠性已经得到了严格评估,并在本文中进行了讨论。事实上,使用基因组芯片可以方便、可靠地识别神经胶质瘤中众所周知的基因组生物标志物。此外,它还可以检测到大量新的隐匿性基因组标记,具有潜在的生物学和/或临床意义。本文回顾了专门用于使用基因组芯片对神经胶质瘤进行基因组特征分析的主要研究。有趣的是,不同的研究小组报告了几个常见的基因组特征,这表明了这些基因组模式的有效性。鉴于此,基因组芯片是一种相对简单且具有成本效益的技术,应该鼓励在分子诊断实验室中实施,作为管理神经胶质瘤患者的有价值的临床工具。