Abstract
Renal cell cancer (RCC) is a rare disease that accounts for 2-3% of all solid malignancies. Although its etiology is not known, approximately 4% of RCC occurs in the context of complex hereditary syndromes in which the kidney lesions are associated with other manifestations. Therefore, clinical suspicion is essential for proper diagnosis and management. In this review a practical summary to aid treating physicians in the identification of hereditary RCC syndromes, including von Hippel-Lindau syndrome, hereditary papillary RCC, Birt-Hogg-Dubé syndrome, and hereditary leiomyomatosis RCC, is provided. Early recognition of these specific populations will lead to better care, correct surveillance, and, in the near future, to personalized treatment taking advantage of underlying genetic defects.
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