Absence of karyotype abnormalities in patients with familial urothelial cell carcinoma

Objectives. In a previous pilot study, a constitutional balanced translocat ion t(5;20)(p15;q11) was identified in a family with urothelial cell carcin oma (UCC). The purpose of this study was to find (additional) constitutiona l chromosomal abnormalities in selected families to obtain an indication fo r genome location(s) of UCC susceptibility gene(s). Methods. UCC families were selected through an ongoing study on familial cl ustering of UCC, the largest study on this subject ever performed. This stu dy included 1193 new patients with UCC of the bladder, ureter, and renal pe lvis, identified from the population-based cancer registries of the Dutch C omprehensive Cancer Centers East and South. Information on demographic fact ors, smoking habits, and family history of UCC was collected by postal ques tionnaires. UCC in the families was verified with pathology reports. Thirty families were selected in which 2 or 3 individuals were affected. preferab ly diagnosed at a relatively young age. Blood samples were obtained from al l probands, and routine cytogenetic analysis was performed on 23 male and 7 female UCC patients. Subsequent spectral karyotyping was performed in 4 pa tients from families, which were most suggestive for an inherited etiology. Results. No aberrant chromosomal features were found by either classical or spectral karyotype analyses. Conclusions. It is conceivable that genetic germline abnormalities do exist in the patients in our study but are below the detection limit of the expl orative methods used in this study. UROLOGY 57: 266-269, 2001. (C) 2001, El sevier Science Inc.