Von Hippel-Lindau disease: strategies in early detection (renal-, adrenal-, pancreatic masses)

Von Hippel-Lindau disease (VHL) is a hereditary syndrome characterized by a predisposition for bilateral and multicentric retinal angiomas, hemangiobl astomas in the central nervous system (CNS), renal cell carcinomas, pheochr omocytomas, islet cell tumors of the pancreas, and endolymphatic sac tumors , as well as cysts in the kidney pancreas, and epididymis. This review focu ses on developments in imaging of renal, adrenal, and pancreatic masses in VHL. Radiology still has a central place in managing of VHL. Radiologists s hould therefore be aware of the importances of MRI, CS: and US compared wit h other radiodiagnostic tools for these three organs. Since a conservative approach to the treatment of VHL lesions is now becoming more widely accept ed, ongoing follow-up by careful radiological screening with US? and especi ally with MRT, will play a central role in managing the disease. We also gi ve an overview of recent advances in the molecular biology of VHL, because the combination of imaging with (presymptomatic) DNA analysis has made earl y detection and screening of lesions possible and led to a reduction in mor bidity and mortality.