Von Hippel-Lindau disease
Von Hippel-Lindau disease is a multisystem tumor syndrome with various benign and malignant neoplasms, consisting mostly of hemangioblastomas of the CNS and retina, renal cell carcinoma, endolymphatic sac tumor of inner ear, and adrenal pheochromocytoma. The lesions can also affect the pancreas, liver, and epididymis (male) or broad ligament (female). It is caused by germline mutations in the VHL tumor suppressor gene, with the associated tumors initiated by biallelic inactivation of the gene.
Jul. 09, 2021