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Hereditary kidney cancer syndromes

Toni K Choueiri, MD
Section Editor
Michael B Atkins, MD
Deputy Editor
Michael E Ross, MD


Hereditary kidney cancer syndromes were originally described based upon clinical observations that defined the disease phenotype. Family studies and advances in molecular genetics have provided important insights into the molecular pathways underlying the pathogenesis of these syndromes, as well as new insights into sporadic renal cell carcinoma (RCC) [1,2]. Each of these syndromes has its own molecular alteration, and these are often reflected in distinctive histologic features and clinical course. Less than 5 percent of all RCC cases are thought to be due to a hereditary syndrome [3].

The inherited kidney cancer syndromes are summarized and reviewed here (table 1). Other topics provide more general discussions of RCC and its management. (See "Clinical manifestations, evaluation, and staging of renal cell carcinoma" and "Epidemiology, pathology, and pathogenesis of renal cell carcinoma" and "Prognostic factors in patients with renal cell carcinoma".)


Autosomal dominant polycystic kidney disease is a common disorder, occurring in approximately 1 in every 400 to 1000 live births. It is estimated that less than one-half of these cases are diagnosed during an individual's lifetime, since the disease is often clinically silent. (See "Genetics of autosomal dominant polycystic kidney disease and mechanisms of cyst growth" and "Course and treatment of autosomal dominant polycystic kidney disease" and "Renal manifestations of autosomal dominant polycystic kidney disease", section on 'Renal cancer'.)

The incidence of renal cell carcinoma (RCC) in patients with polycystic kidney disease does not appear to be increased compared with the general population [4,5]. However, the tumors are more often bilateral at presentation (12 versus 1 to 4 percent in sporadic RCC in the general population), multicentric (28 versus 6 percent), and sarcomatoid in type (33 versus 1 to 5 percent).


Hereditary papillary renal carcinoma (HPRC) is a familial cancer syndrome in which affected individuals are at risk for the development of type 1 papillary renal cell carcinomas [6].

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Literature review current through: Nov 2017. | This topic last updated: May 16, 2017.
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