M. Bentz et al., CHROMOSOME IMBALANCES IN PAPILLARY RENAL-CELL CARCINOMA AND FIRST CYTOGENETIC DATA OF FAMILIAL CASES ANALYZED BY COMPARATIVE GENOMIC HYBRIDIZATION, Cytogenetics and cell genetics, 75(1), 1996, pp. 17-21
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 frequen
t aberrations confirmed data obtained by banding analyses, copy number
increases on 5q, which previously were considered characteristic of n
onpapillary RCC, were identified in two cases. In two complex cases be
longing to the same family, a characteristic pattern of chromosomal ab
errations was found: five of the six imbalances present in the less co
mplex case were included in the karyotype of the other case, suggestin
g a genetically determined mechanism resulting in genomic instability
of specific chromosomes or chromosomal subregions and/or selection of
specific mutations.