Schröck E, Thiel G, Lozanova T, du Manoir S, Meffert M C, Jauch A, Speicher M R, Nürnberg P, Vogel S, Jänisch W
Institute of Human Genetics and Anthropology, University of Heidelberg, Germany.
Am J Pathol. 1994 Jun;144(6):1203-18.
Nine human malignant gliomas (2 astrocytomas grade III and 7 glioblastomas) were analyzed using comparative genomic hybridization (CGH). In addition to the amplification of the EGFR gene at 7p12 in 4 of 9 cases, six new amplification sites were mapped to 1q32, 4q12, 7q21.1, 7q21.2-3, 12p, and 22q12. Nonrandom chromosomal gains and losses were identified with overrepresentation of chromosome 7 and underrepresentation of chromosome 10 as the most frequent events (1 of 2 astrocytomas, 7 of 7 glioblastomas). Gain of a part or the whole chromosome 19 and losses of chromosome bands 9pter-23 and 22q13 were detected each in five cases. Loss of chromosome band 17p13 and gain of chromosome 20 were revealed each in three cases. The validity of the CGH data was confirmed using interphase cytogenetics with YAC clones, chromosome painting in tumor metaphase spreads, and DNA fingerprinting. A comparison of CGH data with the results of chromosome banding analyses indicates that metaphase spreads accessible in primary tumor cell cultures may not represent the clones predominant in the tumor tissue.
使用比较基因组杂交（CGH）技术分析了9例人类恶性胶质瘤（2例III级星形细胞瘤和7例胶质母细胞瘤）。除9例中有4例在7p12处存在表皮生长因子受体（EGFR）基因扩增外，还发现6个新的扩增位点定位于1q32、4q12、7q21.1、7q21.2 - 3、12p和22q12。确定了非随机的染色体增减情况，其中7号染色体的过度代表和10号染色体的低代表是最常见的事件（2例星形细胞瘤中的1例，7例胶质母细胞瘤中的7例）。19号染色体部分或全部增加以及9pter - 23和22q13染色体带丢失在5例中均有检测到。17p13染色体带丢失和20号染色体增加在3例中均有发现。使用YAC克隆的间期细胞遗传学、肿瘤中期铺片的染色体涂染和DNA指纹图谱证实了CGH数据的有效性。将CGH数据与染色体带分析结果进行比较表明，原代肿瘤细胞培养中可获得的中期铺片可能并不代表肿瘤组织中占主导地位的克隆。
