Parathyroid adenoma causes

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Preeti Singh, M.B.B.S.[2], Anmol Pitliya, M.B.B.S. M.D.[3]

Overview

The cause of most parathyroid adenomas is unknown. However, about 10% are said to be hereditary. It can be the result of multiple genetic mutations in genes such as the calcium-sensing receptor gene, HRPT2 gene (CDC73 gene), Cyclin D1 gene (CCND1)/PRAD1 gene, MEN1 gene, and RET gene.

Causes

Parathyroid adenoma is idiopathic in approximately 90% of the individuals. However, approximately 10% of parathyroid adenoma are caused by mutation in genes.^[1]

Genetic Causes

Parathyroid adenoma can be caused by a mutation of the following genes.

Calcium-sensing receptor gene^[2]^[3]
HRPT2 gene (CDC73 gene)^[4]
Cyclin D1 gene (CCND1)/PRAD1 gene^[5]^[6]
MEN1 gene^[7]^[8]
RET gene^[9]
CDNK1B gene^[10]

References

↑ Duan K, Gomez Hernandez K, Mete O (October 2015). "Clinicopathological correlates of hyperparathyroidism". J. Clin. Pathol. 68 (10): 771–87. doi:10.1136/jclinpath-2015-203186. PMID 26163537.
↑ Hosokawa Y, Pollak MR, Brown EM, Arnold A (1995). "Mutational analysis of the extracellular Ca(2+)-sensing receptor gene in human parathyroid tumors". J. Clin. Endocrinol. Metab. 80 (11): 3107–10. doi:10.1210/jcem.80.11.7593409. PMID 7593409.
↑ Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P, Trivedi S, Hellman P, Brown EM, Dahl N, Rastad J (2000). "Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor". J. Clin. Endocrinol. Metab. 85 (5): 2042–7. doi:10.1210/jcem.85.5.6477. PMID 10843194.
↑ Shattuck TM, Välimäki S, Obara T, Gaz RD, Clark OH, Shoback D; et al. (2003). "Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma". N Engl J Med. 349 (18): 1722–9. doi:10.1056/NEJMoa031237. PMID 14585940.
↑ Westin G, Björklund P, Akerström G (2009). "Molecular genetics of parathyroid disease". World J Surg. 33 (11): 2224–33. doi:10.1007/s00268-009-0022-6. PMID 19373510.
↑ Hsi ED, Zukerberg LR, Yang WI, Arnold A (1996). "Cyclin D1/PRAD1 expression in parathyroid adenomas: an immunohistochemical study". J Clin Endocrinol Metab. 81 (5): 1736–9. doi:10.1210/jcem.81.5.8626826. PMID 8626826.
↑ Westin G, Björklund P, Akerström G (2009). "Molecular genetics of parathyroid disease". World J Surg. 33 (11): 2224–33. doi:10.1007/s00268-009-0022-6. PMID 19373510.
↑ Agarwal SK, Kester MB, Debelenko LV, Heppner C, Emmert-Buck MR, Skarulis MC; et al. (1997). "Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states". Hum Mol Genet. 6 (7): 1169–75. PMID 9215689.
↑ Marquard, Jessica; Eng, Charis (September 27, 1999). "Multiple Endocrine Neoplasia Type 2". GeneReviews® [Internet].
↑ Bilezikian JP (January 15, 2017). De Groot LJ, Chrousos G, Dungan K, et al., eds. Primary Hyperparathyroidism. Endotext [Internet]: South Dartmouth (MA): MDText.com, Inc.

[pmid26163537-1] Duan K, Gomez Hernandez K, Mete O (October 2015). "Clinicopathological correlates of hyperparathyroidism". J. Clin. Pathol. 68 (10): 771–87. doi:10.1136/jclinpath-2015-203186. PMID 26163537.

[pmid7593409-2] Hosokawa Y, Pollak MR, Brown EM, Arnold A (1995). "Mutational analysis of the extracellular Ca(2+)-sensing receptor gene in human parathyroid tumors". J. Clin. Endocrinol. Metab. 80 (11): 3107–10. doi:10.1210/jcem.80.11.7593409. PMID 7593409.

[pmid10843194-3] Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P, Trivedi S, Hellman P, Brown EM, Dahl N, Rastad J (2000). "Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor". J. Clin. Endocrinol. Metab. 85 (5): 2042–7. doi:10.1210/jcem.85.5.6477. PMID 10843194.

[pmid14585940-4] Shattuck TM, Välimäki S, Obara T, Gaz RD, Clark OH, Shoback D; et al. (2003). "Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma". N Engl J Med. 349 (18): 1722–9. doi:10.1056/NEJMoa031237. PMID 14585940.

[pmid19373510-5] Westin G, Björklund P, Akerström G (2009). "Molecular genetics of parathyroid disease". World J Surg. 33 (11): 2224–33. doi:10.1007/s00268-009-0022-6. PMID 19373510.

[pmid8626826-6] Hsi ED, Zukerberg LR, Yang WI, Arnold A (1996). "Cyclin D1/PRAD1 expression in parathyroid adenomas: an immunohistochemical study". J Clin Endocrinol Metab. 81 (5): 1736–9. doi:10.1210/jcem.81.5.8626826. PMID 8626826.

[pmid193735102-7] Westin G, Björklund P, Akerström G (2009). "Molecular genetics of parathyroid disease". World J Surg. 33 (11): 2224–33. doi:10.1007/s00268-009-0022-6. PMID 19373510.

[pmid9215689-8] Agarwal SK, Kester MB, Debelenko LV, Heppner C, Emmert-Buck MR, Skarulis MC; et al. (1997). "Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states". Hum Mol Genet. 6 (7): 1169–75. PMID 9215689.

[9] Marquard, Jessica; Eng, Charis (September 27, 1999). "Multiple Endocrine Neoplasia Type 2". GeneReviews® [Internet].

[10] Bilezikian JP (January 15, 2017). De Groot LJ, Chrousos G, Dungan K, et al., eds. Primary Hyperparathyroidism. Endotext [Internet]: South Dartmouth (MA): MDText.com, Inc.

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