Kurian Kathreena M, Jones David T W, Marsden Faye, Openshaw Sam W S, Pearson Danita M, Ichimura Koichi, Collins V Peter
Department of Pathology, Division of Molecular Histopathology, Cambridge University, Cambridge, UK.
Brain Pathol. 2008 Oct;18(4):469-73. doi: 10.1111/j.1750-3639.2008.00148.x. Epub 2008 Apr 7.
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.
室管膜下瘤（SE）是一种生长缓慢的脑肿瘤，多见于中老年成人的脑室。世界卫生组织将这些肿瘤归类于室管膜瘤组。以往对这种肿瘤类型的有限分析未发现明显的潜在细胞遗传学异常。我们使用微阵列比较基因组杂交技术研究了一系列室管膜下瘤（n = 12）。分辨率为0.97 Mb的全基因组阵列显示，12例中有5例（42%）存在拷贝数异常。2例（17%）显示6号染色体存在缺失区域。使用6号染色体平铺路径阵列对所有病例进行更详细的分析，仅在这2例中证实存在重叠的缺失区域。其中1例还显示7号染色体三体。另外2例（17%）可见8号染色体单体，另有1例观察到14号染色体部分缺失。这是第一项基于阵列的室管膜下瘤全基因组研究。在0.97 Mb分辨率下，12例受检病例中有5例（42%）显示染色体拷贝数异常，这一观察结果在这种肿瘤类型中是一个新发现。
