Authors: Gunnar Westin Peyman Björklund Göran Åkerström
Publish Date: 2009/04/17
Volume: 33, Issue: 11, Pages: 2224-2233
Abstract
Primary hyperparathyroidism HPT is often caused by a benign parathyroid tumor adenoma less commonly by multiglandular parathyroid disease/hyperplasia and rarely by parathyroid carcinoma Patients with multiple tumors require wider exploration to avoid recurrence and have increased risk for hereditary disease Secondary HPT is a common complication of renal failure Improved knowledge of the molecular background of parathyroid tumor development may help select patients for appropriate surgical treatment and can eventually provide new means of treatment The present contribution summarizes more recent knowledge of parathyroid molecular geneticsMost parathyroid adenomas and hyperplastic glands are monoclonal lesions Cyclin D1 gene CCND1 translocation and oncogene action occur in 8 of adenomas cyclin D1 overexpression is seen in 20 to 40 of parathyroid adenomas and in 31 of secondary hyperplastic glands Somatic loss of one MEN1 allele is seen in 25 to 40 of sporadic parathyroid adenomas half of which have inactivating mutation of the remaining allele Inactivating somatic HRPT2 mutations are common in parathyroid carcinoma often causing decreased expression of the protein parafibromin involved in cyclin D1 regulation Aberrant regulation of Wnt/βcatenin signaling may be important for parathyroid tumor development
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