Von Hippel-Lindau (VHL) disease is an autosomal dominant inherited syndrome occurring in one out of 36,000 live births. Diagnosis could be a challenge in patients with no familial VHL history. Renal cancer (RCC) represents one of the most important manifestations. RCC is usually recurrent and multifocal. Actually treating RCC in VHL patients represent a clinical dilemma: the oncological outcomes must be balanced against renal function preservation.
A young man with a negative familial history was referred to our department with seven misdiagnosed renal masses. VHL disease was determined through genetic test. The multiple RCCs were treated by surgery and percutaneous thermal ablation by radiofrequency ablation (RFA) with complete control of RCC and no impairment of renal function.
This case history confirms that VHL disease has to be suspected in young patients with evidence of synchronous multiple renal masses and in presence of specific clinical criteria.RFA appears to be safe in terms of oncological radicalism and in renal function preservation.In hereditary RCC, we should purpose, whenever it is possible, minimally invasive treatment in terms of low hospital stay and a minimal loss of renal tissue.
Urologia. 2017 Feb 28 [Epub ahead of print]
Marco Allasia, Antonino Battaglia, Barbara Pasini, Carlo Gazzera, Marco Calandri, Andrea Bosio, Paolo Gontero, Paolo Destefanis
Division of Urology - Department of Surgical Science, A.O.U. Città della Salute e della Scienza di Torino - Presidio Molinette, University of Turin, Turin - Italy., Unit of Medical Genetics, Department of Preventive and Predictive Medicine, A.O.U. Città della Salute e della Scienza di Torino - Presidio Molinette, University of Turin, Turin - Italy., Department of Interventional Radiology and Diagnostic Imaging, A.O.U. Città della Salute e della Scienza - Presidio Molinette, University of Turin, Turin - Italy.