Parathyroid adenoma causes: Difference between revisions
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{{Parathyroid adenoma}} | {{Parathyroid adenoma}} | ||
{{CMG}}; {{AE}} {{Preeti}} | {{CMG}}; {{AE}} {{Preeti}}, {{Anmol}} | ||
==Overview== | ==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. | 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== | ==Causes== | ||
Parathyroid adenoma is idiopathic in approximately 90% of the individuals. However, approximately 10% of parathyroid adenoma are caused by mutation in genes.<ref name="pmid26163537">{{cite journal |vauthors=Duan K, Gomez Hernandez K, Mete O |title=Clinicopathological correlates of hyperparathyroidism |journal=J. Clin. Pathol. |volume=68 |issue=10 |pages=771–87 |date=October 2015 |pmid=26163537 |doi=10.1136/jclinpath-2015-203186 |url=}}</ref> | |||
===Genetic Causes=== | ===Genetic Causes=== | ||
*Parathyroid adenoma can be caused by a mutation of the following genes. | *Parathyroid adenoma can be caused by a mutation of the following genes. | ||
:*Calcium-sensing receptor gene | :*Calcium-sensing receptor gene<ref name="pmid7593409">{{cite journal |vauthors=Hosokawa Y, Pollak MR, Brown EM, Arnold A |title=Mutational analysis of the extracellular Ca(2+)-sensing receptor gene in human parathyroid tumors |journal=J. Clin. Endocrinol. Metab. |volume=80 |issue=11 |pages=3107–10 |year=1995 |pmid=7593409 |doi=10.1210/jcem.80.11.7593409 |url=}}</ref><ref name="pmid10843194">{{cite journal |vauthors=Carling T, Szabo E, Bai M, Ridefelt P, Westin G, Gustavsson P, Trivedi S, Hellman P, Brown EM, Dahl N, Rastad J |title=Familial hypercalcemia and hypercalciuria caused by a novel mutation in the cytoplasmic tail of the calcium receptor |journal=J. Clin. Endocrinol. Metab. |volume=85 |issue=5 |pages=2042–7 |year=2000 |pmid=10843194 |doi=10.1210/jcem.85.5.6477 |url=}}</ref> | ||
:*HRPT2 gene (CDC73 gene) | :*HRPT2 gene (CDC73 gene)<ref name="pmid14585940">{{cite journal| author=Shattuck TM, Välimäki S, Obara T, Gaz RD, Clark OH, Shoback D et al.| title=Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. | journal=N Engl J Med | year= 2003 | volume= 349 | issue= 18 | pages= 1722-9 | pmid=14585940 | doi=10.1056/NEJMoa031237 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=14585940 }}</ref> | ||
:*[[Cyclin D1 gene]] (CCND1)/PRAD1 gene | :*[[Cyclin D1 gene]] (CCND1)/PRAD1 gene<ref name="pmid19373510">{{cite journal| author=Westin G, Björklund P, Akerström G| title=Molecular genetics of parathyroid disease. | journal=World J Surg | year= 2009 | volume= 33 | issue= 11 | pages= 2224-33 | pmid=19373510 | doi=10.1007/s00268-009-0022-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19373510 }}</ref><ref name="pmid8626826">{{cite journal| author=Hsi ED, Zukerberg LR, Yang WI, Arnold A| title=Cyclin D1/PRAD1 expression in parathyroid adenomas: an immunohistochemical study. | journal=J Clin Endocrinol Metab | year= 1996 | volume= 81 | issue= 5 | pages= 1736-9 | pmid=8626826 | doi=10.1210/jcem.81.5.8626826 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=8626826 }}</ref> | ||
:*[[MEN1 gene]] | :*[[MEN1 gene]]<ref name="pmid193735102">{{cite journal| author=Westin G, Björklund P, Akerström G| title=Molecular genetics of parathyroid disease. | journal=World J Surg | year= 2009 | volume= 33 | issue= 11 | pages= 2224-33 | pmid=19373510 | doi=10.1007/s00268-009-0022-6 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=19373510 }}</ref><ref name="pmid9215689">{{cite journal| author=Agarwal SK, Kester MB, Debelenko LV, Heppner C, Emmert-Buck MR, Skarulis MC et al.| title=Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. | journal=Hum Mol Genet | year= 1997 | volume= 6 | issue= 7 | pages= 1169-75 | pmid=9215689 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=9215689 }}</ref> | ||
:*[[RET gene]] | :*[[RET gene]]<ref>{{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK1257/|title=Multiple Endocrine Neoplasia Type 2 |last1=Marquard |first1=Jessica |last2=Eng |first2=Charis |date=September 27, 1999 |website= |publisher=GeneReviews® [Internet] |access-date= |quote=}}</ref> | ||
:*CDNK1B gene<ref>{{cite book |last=Bilezikian |first=JP |date=January 15, 2017 |title=Primary Hyperparathyroidism |veditors=De Groot LJ, Chrousos G, Dungan K, et al.|url=https://www.ncbi.nlm.nih.gov/books/NBK278923 |location=Endotext [Internet] |publisher= South Dartmouth (MA): MDText.com, Inc.|page= |isbn= |author-link= }}</ref> | |||
==References== | ==References== | ||
{{Reflist|2}} | {{Reflist|2}} | ||
Latest revision as of 13:50, 29 May 2019
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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.
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.