Tong C Y, Zheng P P, Pang J C, Poon W S, Chang A R, Ng H K
Department of Anatomical and Cellular Pathology, The Chinese University of Hong Kong.
J Neurosurg. 2001 Jul;95(1):9-14. doi: 10.3171/jns.2001.95.1.0009.
Ependymomas are rare glial neoplasms; little is known about the molecular pathogenesis of this tumor entity. In a previous study the authors found multiple genomic imbalances in ependymomas resected in 20 adults and eight children, including loss of chromosomes 1p, 6, 16, 17, 19q, 20q, and 22q, as well as gain of chromosomes 4q, 5q, 7q, 9q, and 12q on comparative genomic hybridization. The aim of this study was to map in more detail the commonly affected regions in ependymomas.
A comprehensive allelotype analysis of 16 ependymomas was conducted using 384 microsatellite markers that span the 22 autosomes. Based on this high-resolution loss of heterozygosity analysis, multiple overlapping deletion regions were identified as follows: 6q25.2-27, 16p12-13.1, 16q22.3-24.1, 17q22-24, 19q12-13.2, 20q13.2-13.3, and 22q13.1-13.3.
These data confirmed previous reports that loss of chromosomes 17 and 22 were common in ependymomas. Moreover, the authors were able to identify loss of chromosomes 13, 16, 19, and 20 as novel findings in ependymomas. It is believed that potential tumor suppressor genes that reside in these commonly deleted regions may contribute to the molecular tumorigenesis of ependymomas.
室管膜瘤是一种罕见的神经胶质瘤；关于这种肿瘤实体的分子发病机制知之甚少。在先前的一项研究中，作者发现20名成人和8名儿童切除的室管膜瘤存在多种基因组失衡，包括在比较基因组杂交中1号染色体短臂、6号、16号、17号、19号染色体长臂、20号染色体长臂和22号染色体长臂缺失，以及4号染色体长臂、5号染色体长臂、7号染色体长臂、9号染色体长臂和12号染色体长臂增加。本研究的目的是更详细地绘制室管膜瘤中常见受累区域。
使用覆盖22条常染色体的384个微卫星标记对16例室管膜瘤进行全面的等位基因分型分析。基于这种高分辨率的杂合性缺失分析，确定了多个重叠的缺失区域，如下所示：6q25.2 - 27、16p12 - 13.1、16q22.3 - 24.1、17q22 - 24、19q12 - 13.2、20q13.2 - 13.3和22q13.1 - 13.3。
这些数据证实了先前的报道，即17号和22号染色体缺失在室管膜瘤中很常见。此外，作者能够确定13号、16号、19号和20号染色体缺失是室管膜瘤中的新发现。据信，位于这些常见缺失区域的潜在肿瘤抑制基因可能有助于室管膜瘤的分子肿瘤发生。
