Von Hippel-Lindau disease with multiple malignant renal tumors: the importance of genetic testing

We present an adult man who, while being evaluated for gross hematuria, was found to have polycystic kidneys and multiple bilateral renal cell carcino mas. Further evaluation and the presence of a significant family history of cancer suggested the diagnosis of von Hippel-Lindau disease. Through the a id of genetic testing, this unusual diagnosis was confirmed and led to the identification of other family members with the von Hippel-Lindau gene. Pat ients with von Hippel-Lindau disease have an increased incidence of maligna nt carcinomas and the syndrome can mimic the presentation of other cystic d iseases of the kidney. Early diagnosis and genetic screening of family memb ers is essential to improve the prognosis and survival of those affected.