PURPOSE OF REVIEW: Changing strategies in the evaluation and treatment of renal neoplasms have been fostered by developments in the understanding of the genetics and molecular biology of renal tumors. Many of these discoveries have come from research into hereditary kidney cancer syndromes and the genetic mutations responsible for tumorigenesis. The purpose of this review is to familiarize the reader with the known heritable forms of kidney cancer, the recent advances in the field and their impact on patient management. RECENT FINDINGS: Genetic and phenotypic characterization of renal cancer syndromes includes von Hippel-Lindau disease, Birt-Hogg-Dube syndrome, hereditary papillary renal carcinoma, and hereditary leiomyomatosis and renal carcinoma. SUMMARY: Hereditary kidney cancer syndromes offer valuable insight into the pathogenesis of kidney cancer through identification of the underlying genetic mechanisms common to hereditary and sporadic forms of disease. An understanding of the manifestations of these diseases is necessary to allow for accurate diagnosis of patients and to provide the opportunity for appropriate screening. Conservative management strategies have been developed and should be followed to limit treatment-related morbidity.
