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State of the Art |
1 From the Imaging Sciences Program (P.L.C.), Genetic Epidemiology Branch, DCEG, NCI (G.M.G.), Urologic Oncology Branch, CCR, NCI (M.M.W., W.M.L.), and Laboratory of Immunobiology, NCI-Frederick (B.Z.), National Institutes of Health, 10 Center Dr, Rm 1C660, Bethesda, MD 20892-1182. Received July 30, 2001; revision requested September 24; revision received January 4, 2002; accepted January 29; updated July 31. Address correspondence to P.L.C. (e-mail: pchoyke@nih.gov).
Hereditary renal cancer syndromes can lead to multiple bilateral kidney tumors that occur at a younger age than do nonhereditary renal cancers. Imaging plays an important role in the diagnosis and management of these syndromes. During the past decade, several new hereditary renal syndromes have been discovered but are not yet widely known. Whereas previously, the list of hereditary renal cancers in adults included von Hippel–Lindau disease and a rare form of chromosomal translocation, the list now includes the following syndromes: tuberous sclerosis, hereditary papillary renal cancer, Birt-Hogg-Dubé syndrome, hereditary leiomyoma renal cell carcinoma, familial renal oncocytoma, hereditary nonpolyposis colon cancer, and medullary carcinoma of the kidney. In addition, a number of newly described but poorly understood syndromes are under investigation. Even at this early stage, it is clear that elucidation of the underlying genetic mutations that cause hereditary renal cancer syndromes will have profound implications for understanding the origins of nonhereditary renal tumors. These studies will likely culminate in a better understanding of the causes of renal cancer, its prevention, and, ultimately, its cure.
© RSNA, 2002
Index terms: Angiomyolipoma, 81.3141 • Genes and genetics • Kidney, CT, 81.12111, 81.12112 • Kidney neoplasms, 81.31, 81.32 • Sclerosis, tuberous, 81.18 • State of the Art • von Hippel–Lindau disease, 81.1834
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