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Genetic analysis of 2 cases of clear cell renal cancer in 2 sisters
Author(s) -
Bos Siebe D.,
van den Berg Eva,
Dijkhuizen Trynie,
van den Berg Anke,
Draaijers Tineke G.,
Mensink Han J. A.
Publication year - 1998
Publication title -
international journal of cancer
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.475
H-Index - 234
eISSN - 1097-0215
pISSN - 0020-7136
DOI - 10.1002/(sici)1097-0215(19980812)77:4<494::aid-ijc3>3.0.co;2-p
Subject(s) - genetics , biology , chromosomal translocation , tuberous sclerosis , allele , chromosome , karyotype , renal cell carcinoma , haplotype , genetic analysis , gene , pathology , medicine
Two sisters affected with renal cell carcinoma (RCC) is an extremely rare finding, and may indicate a hereditary pattern or the presence of other predisposing factors. We describe here 2 sisters presenting with clear cell renal cell cancer. Examination for von Hippel‐Lindau ( VHL )‐related features and tuberous sclerosis (M. Bourneville) was negative and both had a normal constitutional karyotype. Cytogenetic analysis of the tumor tissue of both patients showed a translocation involving chromosomes 3 and 5, resulting in loss of 3p sequences and gain of part of 5q. The 5q breakpoints were similar, but the breakpoints at 3p appeared to differ. Allelic imbalance analysis supported our observations. Microsatellite analysis revealed that both sisters inherited different chromosome 3 parental alleles. For chromosome 5, 3 different haplotypes could be deduced, but the chromosome 5 alleles overrepresented in the different tumor tissues were from different parental origin. The development of the 2 RCCs in these 2 sisters thus cannot be explained by the inheritance of a mutated VHL gene located at 3p25, nor by the inheritance of other gene defects at chromosomes 3p or 5q. Although the chance that 2 sisters develop sporadic RCC is very low, in the presented case it is probably coincidental or related to another genetic predisposition. Int. J. Cancer 77:494–497, 1998. © 1998 Wiley‐Liss, Inc.