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Genetic defects associated with familial and sporadic hyperparathyroidism.
Front Horm Res. 2013; 41:149-65.FH

Abstract

Primary hyperparathyroidism (PHPT) occurs sporadically, but occasionally it may be a feature of a familial condition, such as multiple endocrine neoplasia type 1 (MEN1), MEN2A, or the HPT-jaw tumor syndrome (HPT-JT), and familial hypocalciuric hypercalcemia/neonatal severe hyperparathyroidism (FHH/NSHPT). PHPT may also occur as familial isolated hyperparathyroidism (FIHP), and has been observed as a consequence of mutations in the CDKN1B gene (MEN4). Tumorigenesis in these conditions may be the result of protooncogene activation (e.g. RET in MEN2) or two-hit losses of a tumor suppressor (e.g. MEN1, HPT-JT). In patients with MEN1, HPT-JT or FHH/NSHPT, the hyperparathyroidism manifests at a younger age and affects both sexes equally. In MEN1, mutations of the MEN1 gene also cause enteropancreatic and anterior pituitary tumors. In MEN2, activating mutations in the RET protooncogene also cause medullary thyroid carcinoma and pheochromocytoma. In HPT-JT, mutations of CDC73/HRPT2 are associated with parathyroid carcinoma, but tumors of the kidneys and uterus are additional features. In some FIHP families, a CASR mutation may be identified. In parathyroid carcinoma, even if sporadic, molecular diagnostics for CDC73/HRPT2 should be considered, as it should be for younger patients. Further exploration of these hereditary syndromes may shed light on the molecular mechanisms giving rise to nonhereditary PHPT.

Authors+Show Affiliations

Departments of Medicine, Physiology and Human Genetics, McGill University, and Calcium Research Laboratory and Hormones and Cancer Research Unit, Royal Victoria Hospital, Montreal, Quebec, Canada. geoffrey.hendy @ mcgill.caNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

23652676

Citation

Hendy, Geoffrey N., and David E C. Cole. "Genetic Defects Associated With Familial and Sporadic Hyperparathyroidism." Frontiers of Hormone Research, vol. 41, 2013, pp. 149-65.
Hendy GN, Cole DE. Genetic defects associated with familial and sporadic hyperparathyroidism. Front Horm Res. 2013;41:149-65.
Hendy, G. N., & Cole, D. E. (2013). Genetic defects associated with familial and sporadic hyperparathyroidism. Frontiers of Hormone Research, 41, 149-65. https://doi.org/10.1159/000345675
Hendy GN, Cole DE. Genetic Defects Associated With Familial and Sporadic Hyperparathyroidism. Front Horm Res. 2013;41:149-65. PubMed PMID: 23652676.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Genetic defects associated with familial and sporadic hyperparathyroidism. AU - Hendy,Geoffrey N, AU - Cole,David E C, Y1 - 2013/03/19/ PY - 2013/5/9/entrez PY - 2013/5/9/pubmed PY - 2013/12/18/medline SP - 149 EP - 65 JF - Frontiers of hormone research JO - Front Horm Res VL - 41 N2 - Primary hyperparathyroidism (PHPT) occurs sporadically, but occasionally it may be a feature of a familial condition, such as multiple endocrine neoplasia type 1 (MEN1), MEN2A, or the HPT-jaw tumor syndrome (HPT-JT), and familial hypocalciuric hypercalcemia/neonatal severe hyperparathyroidism (FHH/NSHPT). PHPT may also occur as familial isolated hyperparathyroidism (FIHP), and has been observed as a consequence of mutations in the CDKN1B gene (MEN4). Tumorigenesis in these conditions may be the result of protooncogene activation (e.g. RET in MEN2) or two-hit losses of a tumor suppressor (e.g. MEN1, HPT-JT). In patients with MEN1, HPT-JT or FHH/NSHPT, the hyperparathyroidism manifests at a younger age and affects both sexes equally. In MEN1, mutations of the MEN1 gene also cause enteropancreatic and anterior pituitary tumors. In MEN2, activating mutations in the RET protooncogene also cause medullary thyroid carcinoma and pheochromocytoma. In HPT-JT, mutations of CDC73/HRPT2 are associated with parathyroid carcinoma, but tumors of the kidneys and uterus are additional features. In some FIHP families, a CASR mutation may be identified. In parathyroid carcinoma, even if sporadic, molecular diagnostics for CDC73/HRPT2 should be considered, as it should be for younger patients. Further exploration of these hereditary syndromes may shed light on the molecular mechanisms giving rise to nonhereditary PHPT. SN - 1662-3762 UR - https://www.unboundmedicine.com/medline/citation/23652676/Genetic_defects_associated_with_familial_and_sporadic_hyperparathyroidism_ L2 - https://www.karger.com?DOI=10.1159/000345675 DB - PRIME DP - Unbound Medicine ER -