Von Hippel Lindau Disease: A Review Article

Le résumé fourni par la source

Von Hippel Lindau (VHL) disease is an inherited disease, multisystem cancer syndrome owing to genetic mutation of the VHL tumor suppressor gene located at chromosome 3.It is inherited as highly penetrant autosomal dominant trait with affected individuals at risk of developing various benign or malignant lesions of central nervous system, retina, kidney, adrenal glands, pancreas, and reproductive system.The diagnosis of VHL can be made clinically based on the characteristic history and clinical findings.Genetic testing of germline VHL mutation may also be used to confirm the diagnosis of VHL.Treatment should be based on multidisciplinary approach as there are many complexities associated with the management of various tumors manifesting at different time frames.

Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.