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首页> 外文期刊>Brain pathology >Genome-wide analysis of subependymomas shows underlying chromosomal copy number changes involving chromosomes 6, 7, 8 and 14 in a proportion of cases.
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Genome-wide analysis of subependymomas shows underlying chromosomal copy number changes involving chromosomes 6, 7, 8 and 14 in a proportion of cases.

机译:对室管膜下瘤的全基因组分析显示,在一定比例的病例中,潜在的染色体拷贝数变化涉及染色体6、7、8和14。

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Abstract Subependymomas (SE) are slow-growing brain tumors that tend to occur within the ventricles of middle-aged and elderly adults. The World Health Organization classifies these tumors within the ependymoma group. Previous limited analysis of this tumor type had not revealed significant underlying cytogenetic abnormalities. We have used microarray comparative genomic hybridization to study a series of SE (n = 12). A whole-genome array at 0.97-Mb resolution showed copy number abnormalities in five of 12 cases (42%). Two cases (17%) showed regions of loss on chromosome 6. More detailed analysis of all cases using a chromosome 6 tile-path array confirmed the presence of overlapping regions of loss in only these two cases. One of these cases also showed trisomy chromosome 7. Monosomy of chromosome 8 was seen in a further two cases (17%), and a partial loss on chromosome 14 was observed in one additional case. This is the first array-based, genome-wide study of SE. The observation that five of 12 cases examined (42%) at 0.97-Mb resolution showed chromosomal copy number abnormalities is a novel finding in this tumor type.
机译:摘要室管膜下瘤(SE)是生长缓慢的脑部肿瘤,往往发生在中老年人的心室中。世界卫生组织将这些肿瘤归类于室间隔瘤组。先前对该肿瘤类型的有限分析未发现明显的潜在细胞遗传学异常。我们已经使用微阵列比较基因组杂交来研究一系列SE(n = 12)。分辨率为0.97-Mb的全基因组阵列在12例病例中有5例(42%)显示出拷贝数异常。有2例(17%)在6号染色体上显示缺失区域。使用6号染色体图块路径阵列对所有案例进行的更详细分析证实,仅在这两种情况下存在重叠的缺失区域。其中一个案例还显示了7号染色体的三体性,在另外两个案例中(17%)看到了8号染色体的单体性,在另外一个案例中,第14号染色体出现了部分丢失。这是SE的第一个基于阵列的,全基因组的研究。在以0.97-Mb分辨率检查的12例病例中有5例(42%)显示染色体拷贝数异常是这种肿瘤类型的新发现。

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