Renal cell carcinoma (RCC) represents approximately 85% of the neoplasms that arise in adult kidneys [
]. It is divided into several distinct histologic subtypes with characteristic genetic changes; the most common subtypes include clear cell, papillary, and chromophobe variants [
- Motzer R.J.
- Bander N.H.
- Nanus D.M.
N Engl J Med. 1996; 335: 865-875
]. Of the 30,000 RCCs that arise every year in the United States, approximately 4% are associated with hereditary cancer syndromes [
- Eble J.
- Sauter G.
- Epstein J.
- et al.
Tumours of the kidney.
in: Eble J.N. Sauter G. Epstein J.I. Pathology and genetics: tumours of the urinary system and male genital organs. IARC Press, Lyon (France)2004: 9-88
]. Each of the inherited cancer syndromes predisposes patients to distinct subtypes of RCC. Renal involvement can range from solitary to bilateral and multifocal. Age of onset also is variable, although most seem to occur at an earlier age. Management of most, if not all, of these hereditary renal cancer syndromes involves early screening, minimization of surgical intervention, and surgical strategies that preserve residual functional renal parenchyma [
- Linehan W.
- Zbar B.
- Klausner R.D.
Renal cell carcinoma.
in: Scriver C. Beaudet A. Sly W. The metabolic and molecular bases of inherited disease. McGraw-Hill, New York2001: 907-929
]. Analysis of the kindreds who have heritable predispositions to renal neoplasms identified many oncogenes and tumor suppressor genes that are involved and made it possible to identify the affected individuals and carriers by genetic testing. These studies also have shed light on the molecular mechanisms of renal carcinogenesis and novel strategies for therapeutic interventions. This article reviews the clinical, pathologic, and genetic aspects of several familial RCC syndromes.
- Herring J.C.
- Enquist E.G.
- Chernoff A.
- et al.
Parenchymal sparing surgery in patients with hereditary renal cell carcinoma: 10-year experience.
J Urol. 2001; 165: 777-781
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