Parathyroid carcinoma.
Parathyroid carcinoma is an uncommon malignancy. It accounts for less than 1% of cases of primary hyperparathyroidism (HPT). It is manifested by severe hypercalcemia and up to 50% of patients will have concomitant kidney or bone disease. The etiology of parathyroid carcinoma is unknown, however, the recently discovered HRPT2 gene, a tumor suppressor gene encoding for the protein parafibromin, has been implicated in the pathogenesis. Identification of inactivating germ-line mutations in HRPT2 has significant implications for diagnosis and management. This article summarizes the genetic aspects of parathyroid carcinoma, reviews its clinical manifestations, and outlines the principles of surgical therapy, the indications for adjuvant therapy, and the use of bisphosphonate and calcimimetic agents for management of hypercalcemia.
Mittendorf
Elizabeth A
EA
Department of Surgery, Uniformed Services University of the Health Sciences, Bethesda, Maryland, USA.
McHenry
Christopher R
CR
D002277:Carcinoma / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000601:surgery; D019938:Cyclin D1 / Q000235:genetics; D016161:Genes, Retinoblastoma; D016147:Genes, Tumor Suppressor; D018095:Germ-Line Mutation; D006801:Humans; D006934:Hypercalcemia / Q000150:complications; D006961:Hyperparathyroidism / Q000150:complications; D010281:Parathyroid Hormone / Q000097:blood; D010282:Parathyroid Neoplasms / Q000175:diagnosis / Q000209:etiology / Q000235:genetics* / Q000601:surgery; D011506:Proteins / Q000235:genetics; D011518:Proto-Oncogene Proteins / Q000235:genetics; D025521:Tumor Suppressor Proteins
C454900:CDC73 protein, human; C105373:MEN1 protein, human; D010281:Parathyroid Hormone; D011506:Proteins; D011518:Proto-Oncogene Proteins; D025521:Tumor Suppressor Proteins; D019938:Cyclin D1