title: Molecular pathology of parathyroid tumors.
abstract: Primary hyperparathyroidism (pHPT), generally caused by a monoclonal parathyroid adenoma, is a common endocrinopathy. Until recently, the genesis of the disease was poorly understood but during the past decade the molecular pathology of parathyroid tumor development has begun to be unveiled. This review summarizes recent advances in our understanding of genetic predisposition to pHPT, and the role of vitamin D receptor gene (VDR) variants in development of the disease. It has been shown that the multiple endocrine neoplasia tumor suppressor gene (MEN1) is mutated in parathyroid adenomas, and overexpression of the cyclin D1 oncogene [PRAD1 (parathyroid adenoma 1)] seems to contribute to parathyroid tumorigenesis. Several familial hyperparathyroid disorders have been studied, and the identification and characterization of the disease-causing genes have contributed to our understanding of parathyroid physiology and pathophysiology.
authors.affiliation: Endocrine Surgery Unit, Dept Surgery, Uppsala University Hospital, Uppsala, Sweden and the Burnham Institute, La Jolla, CA, USA. tcarling@burnham-inst.org
authors.forename: T
authors.initials: T
authors.lastname: Carling
mesh_terms: D000236:Adenoma / Q000235:genetics; D019938:Cyclin D1 / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D006965:Hyperplasia; D018761:Multiple Endocrine Neoplasia Type 1 / Q000235:genetics; D009154:Mutation; D010280:Parathyroid Glands / Q000473:pathology; D010282:Parathyroid Neoplasms / Q000235:genetics*; D018167:Receptors, Calcitriol / Q000235:genetics
chemical_list: D018167:Receptors, Calcitriol; D019938:Cyclin D1