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Chromosomal and genetic abnormalities in ependymomas detected by fluorescence in situ hybridization or microarray assay

通过荧光原位杂交或微阵列检测检测室管膜瘤的染色体和遗传异常

基本信息

批准号：
17591528
负责人：
ADACHI Jun-Ichi
金额：
$ 2.37万
依托单位：
Saitama Medical University
依托单位国家：
日本
项目类别：
Grant-in-Aid for Scientific Research (C)
财政年份：
2005
资助国家：
日本
起止时间：
2005 至 2006
项目状态：
已结题

来源：
https://kaken.nii.ac.jp/en/grant/KAKENHI-PROJECT-17591528/
关键词：
Ependymoma DNA chip Genetic abnormality FISH 脳腫瘍

项目摘要

Ependymomas account for approximately 3-5% of central nervous system (CNS) tumors. These entities have not yet been subjected to systematic chromosomal and genetic studies. We conducted immunohistochemistry, fluorescence in situ hybridization (FISH) analysis and microarray assay on 37 ependymomas and examined the correlation of chromosomal abnormalities with clinicopathological findings. Paraffin-embedded surgical specimens for 22 intracranial and 15 spinal ependymoma cases were obtained from Saitama Medical School Hospital and its collaborating hospitals (Tokyo Univ., Hiroshima Univ., Hokkaido Univ., Kyorin Univ., Dokkyo University School of Medicine, Otsu Municipal Hospital and Showa General Hospital) in Japan. Human bacterial artificial chromosome (BAC) clones specific to each chromosomal locus were used as FISH probes. BAG DNA was labeled using the Nick Translation method. Eleven (50%) of 22 grade II ependymomas had increased numbers of chromosome 5, regardless of localization of the tumors. Deletions at chromosome 22q12.2 (within the NF2 gene) were found in 3 (13.6%) of 22 intracranial and 8 (53.3%) of 15 spinal ependymomas. Deletions at chromosome 17p13.3 were detected in none of 23 grade II ependymomas and 6 (40%) of 15 anaplastic ependymomas. The incidence of chromosome 17p13.3 loss in anaplastic ependymomas was significantly higher than that in grade II ependymomas (p < 0.01). These results suggest that chromosome 5 aberrations and alteration of the NF2 gene are involved in a subset of grade II ependymomas and spinal ependymomas, respectively. It is possible that chromosome 17p13.3 loss occurs late in the progression of ependymomas and/or causes phenotypic changes of ependymoma cells into more aggressive ones.

室管膜瘤约占中枢神经系统（CNS）肿瘤的3-5%。尚未对这些实体进行系统的染色体和遗传研究。我们对37例室管膜瘤进行了免疫组化、荧光原位杂交（FISH）分析和基因芯片分析，并研究了染色体异常与临床病理结果的相关性。22例颅内室管膜瘤和15例脊髓室管膜瘤的石蜡包埋手术标本来自琦玉医学院医院及其合作医院（东京大学，广岛大学北海道大学杏林大学，Dokkyo大学医学院、大津市立医院和昭和综合医院）。将对每个染色体基因座特异的人细菌人工染色体（BAC）克隆用作FISH探针。使用缺口平移法标记BAG DNA。22例II级室管膜瘤中有11例（50%）5号染色体数目增加，无论肿瘤的位置如何。22例颅内室管膜瘤中3例（13.6%）和15例脊髓室管膜瘤中8例（53.3%）染色体22q12.2（NF 2基因内）缺失。在23例II级室管膜瘤和15例间变性室管膜瘤中，6例（40%）未检测到染色体17p13.3缺失。间变性室管膜瘤染色体17p13.3丢失率明显高于Ⅱ级室管膜瘤（P < 0.01）。这些结果表明，5号染色体畸变和NF-2基因的改变分别涉及II级室管膜瘤和脊髓室管膜瘤的一个子集。染色体17p13.3丢失可能发生在室管膜瘤进展的后期和/或导致室管膜瘤细胞表型改变为更具侵袭性的细胞。