title: Endocrine manifestations of von Hippel-Lindau disease.
abstract: von Hippel-Lindau (VHL) disease is an autosomal dominant disorder caused by heterozygous mutations in the VHL tumor suppressor gene that is characterized by the occurrence of multiple endocrine and nonendocrine lesions. This review focuses on the endocrine manifestations of VHL disease. Pancreatic neuroendocrine proliferations (ductuloinsular complexes, islet dysplasia, endocrine microadenoma, and neuroendocrine tumors), pheochromocytomas, and extra-adrenal paragangliomas are important endocrine manifestations of VHL disease. They frequently display characteristic clinical, biochemical, and histopathologic features that, although not pathognomonic, can be helpful in suggesting VHL disease as the underlying etiology and distinguishing these tumors from sporadic cases. Recent improvements in treatment and outcomes of renal cell carcinomas have allowed pancreatic neuroendocrine tumors to emerge as a significant source of metastatic disease, making the accurate recognition and classification of these neoplasms by the pathologist of utmost importance to determine prognosis, treatment, and follow-up strategies for affected patients.
authors.affiliation: From the Department of Pathology, University Health Network, Toronto, Ontario, Canada, and the Department of Laboratory Medicine and Pathobiology, University of Toronto, Ontario, Canada.
authors.forename: Clarissa
authors.initials: C
authors.lastname: Cassol
authors.forename: Ozgur
authors.initials: O
authors.lastname: Mete
mesh_terms: D000310:Adrenal Gland Neoplasms / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000628:therapy; D002292:Carcinoma, Renal Cell / Q000628:therapy*; D049109:Cell Proliferation; D003937:Diagnosis, Differential; D006801:Humans; D007680:Kidney Neoplasms / Q000628:therapy*; D009154:Mutation; D018358:Neuroendocrine Tumors / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000628:therapy; D010179:Pancreas / Q000473:pathology; D010190:Pancreatic Neoplasms / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000628:therapy; D010235:Paraganglioma / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000628:therapy; D010673:Pheochromocytoma / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000628:therapy; D051794:Von Hippel-Lindau Tumor Suppressor Protein / Q000235:genetics*; D006623:von Hippel-Lindau Disease / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000628:therapy
chemical_list: D051794:Von Hippel-Lindau Tumor Suppressor Protein; C497446:VHL protein, human