Clinical and molecular genetics of parathyroid neoplasms

Metabolic Diseases Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bldg. 10 Room 8C-101, 10 Center Dr. MSC 1752 Bethesda, MD 20892-1752, USA.
Best Practice & Research: Clinical Endocrinology & Metabolism (Impact Factor: 4.6). 06/2010; 24(3):491-502. DOI: 10.1016/j.beem.2010.01.003
Source: PubMed


Primary hyperparathyroidism (HPT) results from the excessive secretion of parathyroid hormone from parathyroid tumours. While most HPT is sporadic, it is associated with a familial syndrome in a minority of cases. The study of these syndromes has helped define the pathophysiology of both familial and sporadic parathyroid neoplasms. Investigation of kindred with multiple endocrine neoplasia type 1 (MEN1) and the hyperparathyroidism-jaw tumour syndrome (HPT-JT) led to the discovery of the tumour suppressor genes MEN1 and HRPT2. We now recognise that somatic mutations in MEN1 and HRPT2 tumour suppressor genes are frequent events in sporadic parathyroid adenomas and carcinomas, respectively. Parathyroid tumours in the MEN2A syndrome result from mutational activation of the RET oncogene. The CCND1/PRAD1 oncogene was discovered by analysis of sporadic parathyroid tumours. Studies of familial isolated HPT and analysis of chromosomal loss and gain in parathyroid tumours suggest that other genes relevant to parathyroid neoplasia await identification.

5 Reads
  • Source
    • "Advances in molecular biology increased our understanding of the pathogenesis of this malignancy. A mutation in HRPT2 (also known as CDC73), a tumor suppressor gene, has been recognized to play a fundamental role in the molecular pathogenesis of parathyroid carcinoma [24]. This gene, which is located on chromosome 1, encodes the protein parafibromin, whose function involves regulation of gene expression and inhibition of cell proliferation. "
    [Show abstract] [Hide abstract]
    ABSTRACT: Parathyroid carcinoma is a rare form of endocrine malignancy accounting for only a small minority of cancer cases. Due to the rarity of this cancer, there are no generalized guidelines for its management; however, surgery remains to be the mainstay therapy. The purpose of this article is to review and summarize the available literature on parathyroid carcinoma, while discussing proposed staging systems and the role of available adjuvant therapies.
    Surgical Oncology 06/2014; 23(2). DOI:10.1016/j.suronc.2014.03.005 · 3.27 Impact Factor
  • Source
    • "Primary hyperparathyroidism (PHPT), whose management is discussed in the elegant and informative review by Ayuk and colleagues [Ayuk et al. 2010], results from a primary defect of autonomous PTH secretion and is defined biochemically when HPT is accompanied by hypercalcaemia and, depending on vitamin D sufficiency, hypercalciuria. It is almost invariably an acquired disease (even if genetically programmed, for example, due to mutations in MENIN, RET, HRPT2 and HNF1B) [Oram et al. 2010; Sharretts and Simonds, 2010], resulting from parathyroid gland hyperplasia or neoplasia (typically adenoma, but rarely carcinoma) [Ayuk et al. 2010]. Severe neonatal HPT can occur with biallelic or severe heterozygous inactivating mutations of the extracellular calcium sensing receptor (CaSR) [Pearce et al. 1995]. "

    Therapeutic advances in endocrinology and metabolism 10/2010; 1(5):191-6. DOI:10.1177/2042018810389646
  • Source

    Best Practice & Research: Clinical Endocrinology & Metabolism 06/2010; 24(3):vii-viii. DOI:10.1016/j.beem.2010.07.004 · 4.60 Impact Factor
Show more

Similar Publications


5 Reads
Available from