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Mol Cell Endocrinol. 2014 Apr 5;386(1-2):46-54. doi: 10.1016/j.mce.2013.09.005. Epub 2013 Sep 11.

Genetic and epigenetic changes in sporadic endocrine tumors: parathyroid tumors.

Author information

1
Center for Molecular Medicine and Division of Endocrinology & Metabolism, University of Connecticut School of Medicine, Farmington, CT 06030-3101, USA.
2
Center for Molecular Medicine and Division of Endocrinology & Metabolism, University of Connecticut School of Medicine, Farmington, CT 06030-3101, USA. Electronic address: molecularmedicine@uchc.edu.

Abstract

Parathyroid neoplasia is most commonly due to benign parathyroid adenoma but rarely can be caused by malignant parathyroid carcinoma. Evidence suggests that parathyroid carcinomas rarely, if ever, evolve through an identifiable benign intermediate, with the notable exception of carcinomas associated with the familial hyperparathyroidism-jaw tumor syndrome. Several genes have been directly implicated in the pathogenesis of typical sporadic parathyroid adenoma; somatic mutations in the MEN1 tumor suppressor gene are the most frequent finding, and alterations in the cyclin D1/PRAD1 oncogene are also firmly established molecular drivers of sporadic adenomas. In addition, good evidence supports mutation in the CDKN1B/p27 cyclin-dependent kinase inhibitor (CDKI) gene, and in other CDKI genes as contributing to disease pathogenesis in this context. Somatic defects in additional genes, including β-catenin, POT1 and EZH2 may contribute to parathyroid adenoma formation but, for most, their ability to drive parathyroid tumorigenesis remains to be demonstrated experimentally. Further, genetic predisposition to sporadic presentations of parathyroid adenoma appears be conferred by rare, and probably low-penetrance, germline variants in CDKI genes and, perhaps, in other genes such as CASR and AIP. The HRPT2 tumor suppressor gene is commonly mutated in parathyroid carcinoma.

KEYWORDS:

Hyperparathyroidism; Parathyroid adenoma; Parathyroid carcinoma

PMID:
24035866
PMCID:
PMC3943641
DOI:
10.1016/j.mce.2013.09.005
[Indexed for MEDLINE]
Free PMC Article
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