Department of Molecular Neuroscience, Institute of Neurology, University College London, National Hospital for Neurology and Neurosurgery, London, UK.
J Neurooncol. 2010 Jul;98(3):305-18. doi: 10.1007/s11060-009-0081-4. Epub 2010 Jan 6.
Little is known about the cytogenetic and molecular genetic events that lead to the formation of paediatric astrocytoma. We have analysed 57 paediatric astrocytoma (WHO grades I-IV) using comparative genomic hybridisation in order to identify common regions of abnormality. Large regions of copy number alterations were infrequent with 71% of tumours demonstrating no genomic imbalance. Furthermore, the most frequent aberrations (including gain of 6q, 2q, and 7q, and loss of 16 and 12q) occurred in only a subset of cases. High-copy number amplification was seen in five tumours at 12 different regions. The presence of copy number alterations was significantly associated with increasing grade of malignancy, and gain of 12q and the presence of high-copy number amplification were associated with a poor outcome in patients with malignant astrocytoma (P = 0.0039 and 0.0085, respectively). FISH analysis confirmed loss of 1p36 identified by CGH. There was no evidence of amplification of EGFR, CDK4, MET, CDK6, c-myc, or MDM2.
关于导致小儿星形细胞瘤形成的细胞遗传学和分子遗传学事件知之甚少。我们使用比较基因组杂交分析了 57 例小儿星形细胞瘤（WHO 分级 I-IV），以鉴定常见的异常区域。大片段拷贝数改变并不常见，71%的肿瘤没有基因组失衡。此外，最常见的畸变（包括 6q、2q 和 7q 的增益，以及 16 和 12q 的缺失）仅发生在一部分病例中。在五个肿瘤中观察到 12 个不同区域的高拷贝数扩增。拷贝数改变的存在与恶性程度的增加显著相关，12q 的增益和高拷贝数扩增与恶性星形细胞瘤患者的不良预后相关（P = 0.0039 和 0.0085）。FISH 分析证实了 CGH 鉴定的 1p36 缺失。没有 EGFR、CDK4、MET、CDK6、c-myc 或 MDM2 扩增的证据。
