High-resolution array-based comparative genomic hybridization of medulloblastomas and supratentorial primitive neuroectodermal tumors.
High-resolution array-based comparative genomic hybridization of medulloblastomas and supratentorial primitive neuroectodermal tumors.
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DOI：
10.1097/00005072-200606000-00003
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发表时间：
2006-06
影响因子：
3.2
通讯作者：
Collins VP
中科院分区：
文献类型：
--
作者：
McCabe MG;Ichimura K;Liu L;Plant K;Bäcklund LM;Pearson DM;Collins VP
髓母细胞瘤和幕上原始神经外胚层肿瘤是侵袭性儿童肿瘤。我们使用全基因组BAC/PAC/cosmid阵列（中位克隆分离为0.97Mb）的阵列比较基因组杂交（CGH）研究了34个髓母细胞瘤和7个幕上原始神经外胚层肿瘤。除了先前研究中已知的大区域外，阵列CGH还允许鉴定和绘制基因组序列拷贝数变化的许多新的小区域。发现了新的扩增，一些包含癌基因，MYCL1， PDGFRA， KIT和MYB，以前未报道在这些肿瘤中显示扩增。此外，一个幕上原始神经外胚层肿瘤丢失了肿瘤抑制基因CDKN2A和CDKN2B的两个拷贝。10例髓母细胞瘤发现提示同染色体17q。与之前使用传统CGH的报道相比，阵列CGH在这些病例中确定了三个不同的断点：Ch 17: 17940393-19251679 (17p11.2, n=6), Ch 17: 20111990-23308272 （17p11.2-17q11.2, n=4）和Ch 17: 38425359-39091575 （17q21.31, n=1）。髓母细胞瘤和幕上原始神经外胚层肿瘤的拷贝数变化模式存在显著差异，这进一步证明了尽管这些肿瘤在形态和行为上具有相似性，但它们在遗传上是不同的。
Medulloblastomas and supratentorial primitive neuroectodermal tumours are aggressive childhood tumours. We report our findings using array comparative genomic hybridisation (CGH) on a whole-genome BAC/PAC/cosmid array with a median clone separation of 0.97Mb to study 34 medulloblastomas and 7 supratentorial primitive neuroectodermal tumours. Array CGH allowed identification and mapping of numerous novel small regions of copy number change to genomic sequence, in addition to the large regions already known from previous studies. Novel amplifications were identified, some encompassing oncogenes, MYCL1, PDGFRA, KIT and MYB, not previously reported to show amplification in these tumours. In addition, one supratentorial primitive neuroectodermal tumour had lost both copies of the tumour suppressor genes CDKN2A & CDKN2B. Ten medulloblastomas had findings suggestive of isochromosome 17q. In contrast to previous reports using conventional CGH, array CGH identified three distinct breakpoints in these cases: Ch 17: 17940393-19251679 (17p11.2, n=6), Ch 17: 20111990-23308272 (17p11.2-17q11.2, n=4) and Ch 17: 38425359-39091575 (17q21.31, n=1). Significant differences were found in the patterns of copy number change between medulloblastomas and supratentorial primitive neuroectodermal tumours, providing further evidence that these tumours are genetically distinct despite their morphological and behavioural similarities.
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影响因子：
8
作者：
Hurst, CD;Fiegler, H;Knowles, MA
通讯作者：
Knowles, MA
影响因子：
8.8
作者：
Avet-Loiseau, H;Vénuat, AM;Terrier-Lacombe, MJ;Lellouch-Tubiana, A;Zerah, M;Vassal, G
通讯作者：
Vassal, G
影响因子：
4.1
作者：
Bayani, J;Zielenska, M;Squire, JA
通讯作者：
Squire, JA
影响因子：
30.8
作者：
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通讯作者：
Stephan, DA
影响因子：
6.4
作者：
Eberhart, CG;Kratz, JE;Burger, PC
通讯作者：
Burger, PC