Frequent deletion of the CDKN2A locus in chordoma: analysis of chromosomal imbalances using array comparative genomic hybridisation.
Frequent deletion of the CDKN2A locus in chordoma: analysis of chromosomal imbalances using array comparative genomic hybridisation.
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CDKN2A基因座的频繁缺失：使用阵列比较基因组杂交分析染色体失衡。
DOI：
10.1038/sj.bjc.6604130
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发表时间：
2008-01-29
影响因子：
8.8
通讯作者：
Mertens, F.
中科院分区：
文献类型：
--
作者：
Hallor, K. H.;Staaf, J.;Jonsson, G.;Heidenblad, M.;von Steyern, F. Vult;Bauer, H. C. F.;IJszenga, M.;Hogendoorn, P. C. W.;Mandahl, N.;Szuhai, K.;Mertens, F.
在脊索发育中起始的体细胞遗传事件尚未被确定。大多数细胞遗传学研究脊索瘤显示近二倍体或中度亚二倍体核型，有几个数字和结构重排。然而，没有一致的结构染色体畸变的报道。这是第一个基于阵列的研究，描述了脉络膜中DNA拷贝数的变化。阵列比较基因组杂交（aCGH）鉴定了所有样本中的拷贝数改变，并且在所有染色体上观察到影响21个研究肿瘤中的5个或更多个的不平衡。在一般情况下，缺失比增益更常见，没有发现高水平的扩增，支持以前的研究结果，主要是大的染色体区域的损失作为一个重要的机制，在脊索发育。虽然经常发现小的不平衡，但其中绝大多数是在单个病例中检测到的;没有影响所有肿瘤的小缺失可以辨别出来。然而，CDKN 2A和CDKN 2B基因座在9 p21同源或异源丢失70%的肿瘤，荧光原位杂交证实的发现，这表明这些基因的失活构成了重要的一步，在脉络膜发展。
The initiating somatic genetic events in chordoma development have not yet been identified. Most cytogenetically investigated chordomas have displayed near-diploid or moderately hypodiploid karyotypes, with several numerical and structural rearrangements. However, no consistent structural chromosome aberration has been reported. This is the first array-based study characterising DNA copy number changes in chordoma. Array comparative genomic hybridisation (aCGH) identified copy number alterations in all samples and imbalances affecting 5 or more out of the 21 investigated tumours were seen on all chromosomes. In general, deletions were more common than gains and no high-level amplification was found, supporting previous findings of primarily losses of large chromosomal regions as an important mechanism in chordoma development. Although small imbalances were commonly found, the vast majority of these were detected in single cases; no small deletion affecting all tumours could be discerned. However, the CDKN2A and CDKN2B loci in 9p21 were homo- or heterozygously lost in 70% of the tumours, a finding corroborated by fluorescence in situ hybridisation, suggesting that inactivation of these genes constitute an important step in chordoma development.
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影响因子：
6.4
作者：
Dahlén, A;Debiec-Rychter, M;Mertens, F
通讯作者：
Mertens, F
影响因子：
2
作者：
Knijnenburg, J;Szuhai, K;Rosenberg, C
通讯作者：
Rosenberg, C
间充质肿瘤的分子图。
影响因子：
12.3
作者：
Henderson, Stephen R;Guiliano, David;Presneau, Nadege;McLean, Sean;Frow, Richard;Vujovic, Sonja;Anderson, John;Sebire, Neil;Whelan, Jeremy;Athanasou, Nick;Flanagan, Adrienne M;Boshoff, Chris
通讯作者：
Boshoff, Chris
影响因子：
7
作者：
Lefebvre, V;Behringer, RR;de Crombrugghe, B
通讯作者：
de Crombrugghe, B
影响因子：
--
作者：
Bovée, JVMG;Sciot, R;Hogendoorn, PCW
通讯作者：
Hogendoorn, PCW