title: von Hippel Lindau disease with colon adenocarcinoma, renal cell carcinoma and adrenal pheochromocytoma.
abstract: von Hippel-Lindau (VHL) disease is an autosomal dominant inherited tumor syndrome characterized by the presence of heterogeneous tumors derived from different organs. VHL is caused by germline mutations in the VHL tumor suppressor gene located on chromosome 3p25-26. The loss of functional VHL protein contributes to tumorigenesis. VHL tumors are most frequently derived from the kidneys, adrenal gland, central nervous system, eyes, inner ear, epididymis and pancreas. We herein describe the case of a 64-year-old man carrying the VHL gene mutation affected by simultaneous colon adenocarcinoma, renal clear cell carcinoma and adrenal pheochromocytoma.
authors.affiliation: Department Unit of Secondary Hypertension, Department of Internal Medicine and Medical Specialities, "Sapienza" University of Rome, Italy.
authors.forename: Laura
authors.initials: L
authors.lastname: Zinnamosca
authors.forename: Anastasia
authors.initials: A
authors.lastname: Laudisi
authors.forename: Luigi
authors.initials: L
authors.lastname: Petramala
authors.forename: Cristiano
authors.initials: C
authors.lastname: Marinelli
authors.forename: Mario
authors.initials: M
authors.lastname: Roselli
authors.forename: Domenico
authors.initials: D
authors.lastname: Vitolo
authors.forename: Chiara
authors.initials: C
authors.lastname: Montesani
authors.forename: Claudio
authors.initials: C
authors.lastname: Letizia
mesh_terms: D000230:Adenocarcinoma / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D000310:Adrenal Gland Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D002292:Carcinoma, Renal Cell / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D003110:Colonic Neoplasms / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D010673:Pheochromocytoma / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006623:von Hippel-Lindau Disease / Q000150:complications / Q000175:diagnosis* / Q000235:genetics