Summary
Familial renal cell carcinoma syndromes form a group of diseases characterised by a predisposition to development of renal cell carcinomas (RCCs) with various histological subtypes. The annual worldwide incidence of renal cell carcinomas (RCCs) is estimated at around 1 in 50,000 but the annual incidence of familial RCC syndromes is less than 1 in 1 500,000. The principle familial RCC syndromes listed in the WHO classification of renal tumours are Von Hippel-Lindau disease, tuberous sclerosis, RCC associated with chromosome 3 translocations, hereditary papillary renal cell carcinoma, Birt-Hogg-Dube syndrome, familial oncocytoma and hereditary leiomyomatosis - RCC (see these terms). Management depends on the stage and type of tumour present. In 2006, the protein kinase inhibitor sorafenib obtained EU marketing authorisation as a second line treatment for advanced stage renal cell carcinoma and may be used for the treatment of some familial renal cell carcinoma syndromes. *Author: Orphanet (May 2007)*.
