Chromosome imbalances in papillary renal cell carcinoma and first cytogenetic data of familial cases analyzed by comparative genomic hybridization
Chromosome imbalances in papillary renal cell carcinoma and first cytogenetic data of familial cases analyzed by comparative genomic hybridization
复制标题
DOI：
10.1159/000134448
复制
发表时间：
1996-01-01
期刊：
影响因子：
--
通讯作者：
Lichter, P
中科院分区：
文献类型：
--
作者：
Bentz, M;Bergerheim, USR;Lichter, P
我们使用比较基因组杂交技术分析了11例乳头状肾细胞癌（RCC）患者的17个肿瘤样本，其中包括3例遗传性乳头状RCC患者。而最常见的畸变证实了显带分析获得的数据，在两例病例中发现了5 q上的拷贝数增加，这在以前被认为是非乳头状RCC的特征。在属于同一个家庭的两个复杂的情况下，染色体畸变的特征模式被发现：在不太复杂的情况下存在的六个不平衡中的五个被包括在其他情况下的核型中，这表明遗传决定的机制导致特定染色体或染色体亚区的基因组不稳定性和/或特定突变的选择。
We used comparative genomic hybridization to analyze 17 tumor samples from 11 patients with papillary renal cell carcinoma (RCC), including three patients with hereditary papillary RCC. Whereas the most frequent aberrations confirmed data obtained by banding analyses, copy number increases on 5q, which previously were considered characteristic of nonpapillary RCC, were identified in two cases. In two complex cases belonging to the same family, a characteristic pattern of chromosomal aberrations was found: five of the six imbalances present in the less complex case were included in the karyotype of the other case, suggesting a genetically determined mechanism resulting in genomic instability of specific chromosomes or chromosomal subregions and/or selection of specific mutations.