Current status of clinical diagnosis and DNA test of von Hippel-Lindau disease in Japan

An outline of the clinical diagnosis including the DNA testing in von Hippel-Lindau (VHL) disease is briefly explained. The current status of the diagnosis and treatment of VHL disease in Japan is also compared with those in European countries. According to the current experience in the world, DNA testing of VHL disease is regarded as one of the important references for the clinical diagnosis of this disease. We have to improve various points in the Japanese status of the clinical diagnosis, genetic counseling, treatment and follow-up in patients with VHL disease.