Familial renal tumors in adults

The diagnosis of familial renal tumors are of enormous practical relevance. The patients classified to suffer from such a condition can be offered an explanation of the origin of their disease which mostly occurs in younger a ge. Further and more important even - if diagnosed preoperatively - they ca n profit from a specific therapeutic regimen which has been now acknowledge d worldwide: patients with inherited renal tumors must be operated using an organ-sparing technique whenever possible. Hereditary clear cell cancer oc curs in subjects with constitutional translocation of chromosome 3 with chr omosomes 2, 6, 8 or 12. Germline mutations of the VHL tumor suppressor gene predispose to Von Hippel-Lindau disease, a multiorgan disorder associated with tumors of the retina, central nervous system, pancreas, adrenals and p araganglia. Germline mutations of the MET protooncogene are associated with papillary renal cancer. Angiomyolipoma, and much rarer, renal carcinoma, a re one of the principal lesions of the tuberous sclerosis complex. Mutation s in two genes can independently initiate tumorigenesis in tuberous scleros is, the TSC1 gene and the TSC2 gene. Molecular-genetic analyses of suscepti ble genes enable a diagnosis on a molecular level. Such tests are an import ant tool for preventive medicine. Carriers can be offered clinical follow-u p and clinical screening for extrarenal-associated conditions. Family membe rs can use molecular testing as an age-independent procedure in order to ru le out or to assure a carrier status with the consequence of timely clinica l screening and treatment of kidney cancer.