Huang Bei, Starostik Petr, Schraut Hannelore, Krauss Jürgen, Sörensen Niels, Roggendorf Wolfgang
Department of Neuropathology, Institute of Pathology, University of Würzburg, Josef-Schneider-Str. 2, 97080 Würzburg, Germany.
Acta Neuropathol. 2003 Oct;106(4):357-62. doi: 10.1007/s00401-003-0739-5. Epub 2003 Jul 24.
Ependymomas are glial tumors of the brain and spinal cord. Genetic aberrations associated with the development of these tumors have not been fully identified yet. In previous cytogenetic and comparative genomic hybridization studies, multiple genomic imbalances in ependymomas were found, including partial or whole chromosome losses (1p, 4q, 6q, 9, 10, 11, 13, 16, 17, 19q, 20q and 22q). The aim of this study was to map particularly the commonly affected regions in ependymomas. Thirty-three pairs of matched normal and tumor specimens from ependymoma patients were genotyped using 34 polymorphic microsatellite markers distributed over 15 chromosomes. Loss of heterozygosity (LOH) was found in 26 of 33 tumors (78.8%). The most frequent LOHs were found on the long arms of chromosomes 6 (30.3%) and 9 (27.3%). LOH was also detected on 3p14 (13.3%), 10q23 (10.3%) and 11q (18.2%). Because of the high percentage of LOH on chromosome 6 and 9, we conclude that important tumor suppressor genes are situated on these two chromosomes.
室管膜瘤是发生于脑和脊髓的神经胶质肿瘤。与这些肿瘤发生相关的基因畸变尚未完全明确。在既往的细胞遗传学和比较基因组杂交研究中，发现室管膜瘤存在多种基因组失衡，包括部分或整条染色体缺失（1p、4q、6q、9、10、11、13、16、17、19q、20q和22q）。本研究的目的是特别绘制室管膜瘤中常见的受累区域。使用分布于15条染色体上的34个多态性微卫星标记，对33例室管膜瘤患者的配对正常和肿瘤标本进行基因分型。33个肿瘤中有26个（78.8%）发现杂合性缺失（LOH）。最常见的LOH发生在6号染色体（30.3%）和9号染色体（27.3%）长臂。在3p14（13.3%）、10q23（10.3%）和11q（18.2%）也检测到LOH。由于6号和9号染色体上LOH的比例较高，我们得出结论，重要的肿瘤抑制基因位于这两条染色体上。
