期刊
GENES CHROMOSOMES & CANCER
卷 48, 期 3, 页码 229-238出版社
WILEY
DOI: 10.1002/gcc.20635
关键词
-
资金
- National Genome Research Network
- Kinderkrebsstiftung
- Heidelberg University
- Deutsche Forschungsgemeinschaft
- [SFB 628]
- [B1/P7]
- [Sta 187/16-1]
Nonresectable ependymomas are associated with poor prognosis despite intensive radiochemotherapy and radiation. The molecular pathogenesis of ependymoma initiation and progression is largely unknown. We here present a case of therapy-refractory, progressive ependymoma with cerebrospinal as well as extraneural metastases, which allowed us for the first time to follow the stepwise accumulation of chromosome aberrations during disease progression. Genome-wide DNA copy-number analysis showed sequential deletions on chromosomes 1, 9, and 14 as well as a homozygous deletion of the CDKN2A locus, underscoring its role in tumor progression. Gradual loss at Ip36 was associated with loss of protein expression of the putative tumor suppressor gene AJAPI/SHREWI. In summary, this is the first report on acquired genomic aberrations in ependymoma over time pointing to novel candidate tumor suppressor genes. This analysis provides molecular insights into the chronology of genetic events in this case from initial localized tumor to widespread metastasized disease. (c) 2008 Wiley-Liss, Inc.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据