Abstract
ObjectiveFamilial Urothelial cell bladder cancer is rare. We report two families with urothelial cell carcinoma (UCC) of bladder with family history in other relatives, displaying probable autosomal dominant inheritance and a late onset pure UCC phenotype, and document the phenotype in each family.MethodsDescriptive familial study on two pedigrees over three generations.ResultsTwo families with UCC bladder were identified, and the phenotype documented, each family having three cases of late onset UCC.ConclusionSome cases of UCC are hereditary and may display autosomal dominant inheritance with late onset of the cancer. Clinicians should be aware of the existence of a familial late onset UCC phenotype when managing cases of UCC.
Highlights
Urothelial cell carcinoma (UCC) of bladder is common
We present two families with pure UCC bladder and a late onset phenotype suggesting that some types of UCC bladder may be late onset and autosomal dominant in nature
UCC bladder may occur with familial autosomal dominant inheritance
Summary
Urothelial cell carcinoma (UCC) of bladder is common. The main aetiological factors identified are cigarette smoking and certain occupational exposures. Familial UCC bladder is rare and infrequently encountered. Documented cases of familial UCC bladder in the medical literature are rare (Fraumeni and Thomas 1967; McCullough et al 1975; Ilic et al 2011) and display early onset. Some families with hereditary non-polyposis colon cancer (HNPCC) in particular due to MSH2 mutations, can include cases of UCC bladder (van der Post et al 2010), these are predominantly upper tract UCC, but often cases reported in the literature have not been checked for HNPCC. We present two families with pure UCC bladder and a late onset phenotype suggesting that some types of UCC bladder may be late onset and autosomal dominant in nature
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