Clear cell renal cell carcinoma detection leading to von Hippel-Lindau disease diagnosis: A case report

Abstract

Background: Von Hippel-Lindau disease is caused by mutations of the VHL tumor-suppressor gene and results in the development of different neoplasias in the central nervous system, eye, and abdomen. Its incidence is low, but patients that develop clear cell renal cell carcinoma have the highest mortality rate. 
 Clinical case: A 45-year-old woman, with a family history of central nervous system and abdominal neoplasias, sought medical attention due to a progressively growing mass in the left flank. A kidney tumor was corroborated through an imaging study, and she underwent left radical nephrectomy. The diagnosis of clear cell renal cell carcinoma was confirmed. In the subsequent approach, she was also diagnosed with von Hippel-Lindau type I disease. 
 Conclusions: Von Hippel-Lindau disease presents with different neoplastic manifestations, and that of clear cell renal cell carcinoma has the highest morbidity and mortality rates. When there is a family history, its early detection is essential for improving outcome and opportunely diagnosing other neoplasias resulting from the disease.