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小儿髓母细胞瘤的阵列比较基因组杂交分析

Array CGH analysis of pediatric medulloblastomas.

作者信息

Rossi Michael R, Conroy Jeffrey, McQuaid Devin, Nowak Norma J, Rutka James T, Cowell John K

机构信息

Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, New York 14263, USA.

出版信息

Genes Chromosomes Cancer. 2006 Mar;45(3):290-303. doi: 10.1002/gcc.20292.

Abstract

Brain tumors are the second most common childhood cancer. We used high-resolution array comparative genomic hybridization (aCGH) to analyze losses and gains of genetic material from 24 medulloblastomas. The bacterial artificial chromosome clones were ordered on the array, allowing for an average resolution of approximately 420 kilobases. The advantage of this high resolution is that the breakpoints associated with subregional chromosome copy number aberrations can be accurately defined, which in turn allows candidate genes within these regions to be readily defined. In this analysis, we confirmed the frequent involvement of loss of 17p and gain of 17q, although we have now established the position of the breakpoint that consistently lies in the chr17:18318880-19046234 region of the chromosome. Other frequent losses were seen on 8p, 10q, 16q, and 20p, and frequent gains were seen on 2p, 4p, 7, and 19. In addition, the fine-resolution mapping provided by aCGH made it possible to define small chromosome deletions in 1q23.3-q24.2, 2q13.12-q13.2, 6q25-qter, 8p23.1, 10q25.1, and 12q13.12-q13.2. Overall, amplification events were rare, the most common involving MYC (16%), on 8q, although isolated events were seen in 10p11 and 3q.

摘要

脑肿瘤是儿童期第二常见的癌症。我们使用高分辨率阵列比较基因组杂交技术(aCGH)分析了24例髓母细胞瘤的遗传物质增减情况。细菌人工染色体克隆在阵列上进行了排序,平均分辨率约为420千碱基。这种高分辨率的优势在于,与亚区域染色体拷贝数畸变相关的断点能够被精确界定,进而使这些区域内的候选基因易于确定。在本次分析中,我们证实了17p缺失和17q增益的频繁出现,尽管我们现已确定断点位置始终位于染色体的chr17:18318880 - 19046234区域。其他常见缺失发生在8p、10q、16q和20p,常见增益发生在2p、4p、7和19。此外,aCGH提供的精细分辨率图谱使得在1q23.3 - q24.2、2q13.12 - q13.2、6q25 - qter、8p23.1、10q25.1和12q13.12 - q13.2区域定义小的染色体缺失成为可能。总体而言,扩增事件很少见,最常见的是8q上的MYC扩增(16%),不过在10p11和3q也发现了孤立事件。

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