title: Molecular profiling in primary hyperparathyroidism.
abstract: Primary hyperparathyroidism (HPT) is one of the most common endocrine disorders, defined by hypersecretion of parathormone. Primary HPT can be caused by adenoma, hyperplasia, and carcinoma. A great amount of mechanisms contribute to the pathogenesis of this disease, such as genetic predispositions because of the germline-inactivating mutations in the multiple endocrine neoplasia type 1 (MEN1) and HRPT2 tumor suppressor genes. Somatic mutations in these genes were found also in sporadic parathyroid neoplasias. Cell cycle regulators, growth factors, apoptosis-inducing ligands, death receptors, and other transmitter substances have also been implicated in the etiology of primary HPT. Parathyroid carcinoma is often misdiagnosed as parathyroid adenoma and long-term survival is conditioned by the extent of the primary surgical resection, therefore, of great interest is the discovery of definitive diagnostic markers for carcinoma. This article presents current state of knowledge of the molecular pathogenesis of primary HPT.
authors.affiliation: Department of Histology and Embryology, Zabrze, Medical University of Silesia, Katowice, Poland.
authors.forename: Oliwia Anna
authors.initials: OA
authors.lastname: Segiet
authors.forename: Mariusz
authors.initials: M
authors.lastname: Deska
authors.forename: Marek
authors.initials: M
authors.lastname: Michalski
authors.forename: Jacek
authors.initials: J
authors.lastname: Gawrychowski
authors.forename: Romuald
authors.initials: R
authors.lastname: Wojnicz
mesh_terms: D017209:Apoptosis; D018797:Cell Cycle Proteins / Q000378:metabolism; D055028:Comparative Genomic Hybridization; D020022:Genetic Predisposition to Disease; D006801:Humans; D049950:Hyperparathyroidism, Primary / Q000235:genetics* / Q000378:metabolism; D036341:Intercellular Signaling Peptides and Proteins / Q000378:metabolism; D019656:Loss of Heterozygosity; D018761:Multiple Endocrine Neoplasia Type 1 / Q000378:metabolism; D018813:Multiple Endocrine Neoplasia Type 2a / Q000378:metabolism; D009154:Mutation; D011518:Proto-Oncogene Proteins / Q000235:genetics; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics; D044169:Receptors, Calcium-Sensing / Q000235:genetics; D025521:Tumor Suppressor Proteins / Q000235:genetics
chemical_list: C095550:CASR protein, human; C454900:CDC73 protein, human; D018797:Cell Cycle Proteins; D036341:Intercellular Signaling Peptides and Proteins; C105373:MEN1 protein, human; D011518:Proto-Oncogene Proteins; D044169:Receptors, Calcium-Sensing; D025521:Tumor Suppressor Proteins; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human
keywords: diagnostic markers; molecular pathogenesis; parathyroid adenoma; parathyroid carcinoma; primary hyperparathyroidism