Molecular biology of primary hyperparathyroidism

Otolaryngologic Clinics of North America

Volumn 37, Issue 4, 2004, Pages 819-831

  Ferris, Robert L ^a   Simental Jr , Alfred A ^b  

^a University of Pittsburgh School of Medicine   (United States)

^b LOMA LINDA UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM SENSING RECEPTOR; CYCLIN D1; CYCLIN DEPENDENT KINASE 4; CYCLIN DEPENDENT KINASE 6; METHIONINE; PARATHYROID HORMONE; PHOSPHOGLYCERATE KINASE; PROTEIN RET; TRANSCRIPTION FACTOR AP 1; TRANSCRIPTION FACTOR E2F; TYROSINE KINASE RECEPTOR; VITAMIN D RECEPTOR;

CELL CYCLE; CHROMOSOME 11Q; COMPARATIVE GENOMIC HYBRIDIZATION; ENDOCRINE SURGERY; GASTRINOMA; GENE EXPRESSION; GENE ISOLATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC IDENTIFICATION; GENETIC SCREENING; HETEROZYGOSITY LOSS; HUMAN; HYPERPARATHYROIDISM; HYPOCALCEMIA; HYPOPHYSIS TUMOR; INSULINOMA; JAW TUMOR; MOLECULAR BIOLOGY; MOLECULAR CLONING; MOLECULAR MECHANICS; MULTIPLE ENDOCRINE NEOPLASIA; NEUROENDOCRINE TUMOR; NONHUMAN; PARATHYROID ADENOMA; PARATHYROID CARCINOMA; PARATHYROID DISEASE; PARATHYROID HORMONE BLOOD LEVEL; PARATHYROID HYPERPLASIA; PATIENT COUNSELING; PHEOCHROMOCYTOMA; PROTEIN BINDING; PROTEIN PHOSPHORYLATION; PROTEIN PROTEIN INTERACTION; PROTO ONCOGENE; REVIEW; SIGNAL TRANSDUCTION; SIPPLE SYNDROME; THYROID MEDULLARY CARCINOMA; TRANSGENIC MOUSE; TUMOR SUPPRESSOR GENE;

ADENOMA; GENETIC SCREENING; HUMANS; HYPERPARATHYROIDISM; MULTIPLE ENDOCRINE NEOPLASIA; MUTATION; PARATHYROID NEOPLASMS; RISK FACTORS;

EID: 3242696997     PISSN: 00306665     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.otc.2004.02.012     Document Type: Review

References (40)

1. Larian B., Alavi S., Roesler J., Namazie A., Blackwell K., Calcaterra T.C., et al. The role of hyperplasia in multiple parathyroid adenomas. Head Neck. 23:2001;134-139
2. Friedman E., De Marco L., Gejman P.V., Norton J.A., Bale A.E., Aurbach G.D., et al. Allelic loss from chromosome 11 in parathyroid tumors. Cancer Res. 52:1992;6804-6809
3. Carling T., Correa P., Hessman O., Hedberg J., Skogseid B., Lindberg D., et al. Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism. J Clin Endocrinol Metab. 83:1998;2960-2963
4. Farnebo F., Teh B.T., Kytola S., Svensson A., Phelan C., Sandelin K., et al. Alterations of the MEN1 gene in sporadic parathyroid tumors. J Clin Endocrinol Metab. 83:1998;2627-2630
5. Karges W., Jostarndt K., Maier S., Flemming A., Weitz M., Wissmann A., et al. Multiple endocrine neoplasia type 1 (MEN1) gene mutations in a subset of patients with sporadic and familial primary hyperparathyroidism target the coding sequence but spare the promoter region. J Endocrinol. 166:2000;1-9
6. Farnebo F., Kytola S., Teh B.T., Dwight T., Wong F.K., Hoog A., et al. Alternative genetic pathways in parathyroid tumorigenesis. J Clin Endocrinol Metab. 84:1999;3775-3780
7. Uchino S., Noguchi S., Sato M., Yamashita H., Watanabe S., Murakami T., et al. Screening of the Men1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumors. Cancer Res. 60:2000;5553-5557
8. Rosenberg C.L., Kim H.G., Shows T.B., Kronenberg H.M., Arnold A. Rearrangement and overexpression of D11S287E, a candidate oncogene on chromosome 11q13 in benign parathyroid tumors. Oncogene. 6:1991;449-453
9. Arnold A., Staunton C.E., Kim H.G., Gaz R.D., Kronenberg H.M. Monoclonality and abnormal parathyroid hormone genes in parathyroid adenomas. N Engl J Med. 318:1988;658-662
10. Arnold A., Kim H.G., Gaz R.D., Eddy R.L., Fukushima Y., Byers M.G., et al. Molecular cloning and chromosomal mapping of DNA rearranged with the parathyroid hormone gene in a parathyroid adenoma. J Clin Invest. 83:1989;2034-2040
11. Vasef M.A., Brynes R.K., Sturm M., Bromley C., Robinson R.A. Expression of cyclin D1 in parathyroid carcinomas, adenomas, and hyperplasias: a paraffin immunohistochemical study. Mod Pathol. 12:1999;412-416
12. Marx S.J. Hyperparathyroid and hypoparathyroid disorders. N Engl J Med. 343:2000;1863-1875
13. Imanishi Y., Hosokawa Y., Yoshimoto K., Schipani E., Mallya S., Papanikolaou A., et al. Primary hyperparathyroidism caused by parathyroid-targeted overexpression of cyclin D1 in transgenic mice. J Clin Invest. 107:2001;1093-1102
14. Hosokawa Y., Tu T., Tahara H., Smith A.P., Arnold A. Absence of cyclin D1/PRAD1 point mutations in human breast cancers and parathyroid adenomas and identification of a new cyclin D1 gene polymorphism. Cancer Lett. 93:1995;165-170
15. Thompson D.B., Samowitz W.S., Odelberg S., Davis R.K., Szabo J., Heath H. III. Genetic abnormalities in sporadic parathyroid adenomas: loss of heterozygosity for chromosome 3q markers flanking the calcium receptor locus. J Clin Endocrinol Metab. 80:1995;3377-3380
16. Burgess J.R., Greenaway T.M., Shepherd J.J. Expression of the MEN-1 gene in a large kindred with multiple endocrine neoplasia type 1. J Intern Med. 243:1998;465-470
17. Carty S.E., Helm A.K., Amico J.A., Clarke M.R., Foley T.P., Watson C.G., et al. The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1. Surgery. 124:1998;1106-1113. [discussion 13-4]
18. Bassett J.H., Forbes S.A., Pannett A.A., Lloyd S.E., Christie P.T., Wooding C., et al. Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet. 62:1998;232-244
19. Mihai R. Molecular influences in thyroid and parathyroid surgery. Best Pract Res Clin Endocrinol Metab. 15:2001;177-188
20. Siradanahalli C., Guru P.K., Goldsmith A., Burns L., Marx S.J., Spiegel A.M., et al. Menin, the product of the MEN1 gene, is a nuclear protein. Proc Natl Acad Sci U S A. 95:(4):1998;1630-1634
21. Larsson C., Skogseid B., Oberg K., Nakamura Y., Nordenskjold M. Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature. 332:1988;85-87
22. Chandrasekharappa S.C., Guru S.C., Manickam P., Olufemi S.E., Collins F.S., Emmert-Buck M.R., et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science. 276:1997;404-407
23. Yazgan O., Pfarr C.M. Differential binding of the menin tumor suppressor protein to JunD isoforms. Cancer Res. 61:2001;916-920
24. Eng C. Seminars in medicine of the Beth Israel Hospital, Boston. The RET proto-oncogene in multiple endocrine neoplasia type 2 and Hirschsprung's disease. N Engl J Med. 335:1996;943-951
25. Willeke F., Hauer M.P., Buchcik R., Gebert J.F., Hahn M., Fitze G., et al. Multiple endocrine neoplasia type 2-associated RET proto-oncogene mutations do not contribute to the pathogenesis of sporadic parathyroid tumors. Surgery. 124:1998;484-490
26. Frilling A., Weber F., Tecklenborg C., Broelsch C.E. Prophylactic thyroidectomy in multiple endocrine neoplasia: the impact of molecular mechanisms of RET proto-oncogene. Langenbecks Arch Surg. 388:2003;17-26
27. Machens A., Niccoli-Sire P., Hoegel J., Frank-Raue K., van Vroonhoven T.J., Roeher H.D., et al. Early malignant progression of hereditary medullary thyroid cancer. N Engl J Med. 349:2003;1517-1525
28. Heath H. III, Jackson C.E., Otterud B., Leppert M.F. Genetic linkage analysis in familial benign (hypocalciuric) hypercalcemia: evidence for locus heterogeneity. Am J Hum Genet. 53:1993;193-200
29. Lloyd S.E., Pannett A.A., Dixon P.H., Whyte M.P., Thakker R.V. Localization of familial benign hypercalcemia, Oklahoma variant (FBHOk), to chromosome 19q13. Am J Hum Genet. 64:1999;189-195
30. Chen J.D., Morrison C., Zhang C., Kahnoski K., Carpten J.D., Teh B.T. Hyperparathyroidism-jaw tumour syndrome. J Intern Med. 253:2003;634-642
31. Carpten J.D., Robbins C.M., Villablanca A., Forsberg L., Presciuttini S., Bailey-Wilson J., et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet. 32:2002;676-680
32. Jackson C.E., Norum R.A., Boyd S.B., Talpos G.B., Wilson S.D., Taggart R.T., et al. Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. Surgery. 108:1990;1006-1012. [discussion 12-3]
33. Mallette L.E., Malini S., Rappaport M.P., Kirkland J.L. Familial cystic parathyroid adenomatosis. Ann Intern Med. 107:1987;54-60
34. Szabo J., Heath B., Hill V.M., Jackson C.E., Zarbo R.J., Mallette L.E., et al. Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. Am J Hum Genet. 56:1995;944-950
35. Hobbs M.R., Pole A.R., Pidwirny G.N., Rosen I.B., Zarbo R.J., Coon H., et al. Hyperparathyroidism-jaw tumor syndrome: the HRPT2 locus is within a 0.7-cM region on chromosome 1q. Am J Hum Genet. 64:1999;518-525
36. Huang S.M., Duh Q.Y., Shaver J., Siperstein A.E., Kraimps J.L., Clark O.H. Familial hyperparathyroidism without multiple endocrine neoplasia. World J Surg. 21:1997;22-28. [discussion 29]
37. Simonds W.F., James-Newton L.A., Agarwal S.K., Yang B., Skarulis M.C., Hendy G.N., et al. Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds. Medicine (Baltimore). 81:2002;1-26
38. Teh B.T., Farnebo F., Twigg S., Hoog A., Kytola S., Korpi-Hyovalti E., et al. Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families. J Clin Endocrinol Metab. 83:1998;2114-2120
39. Dotzenrath C., Teh B.T., Farnebo F., Cupisti K., Svensson A., Toell A., et al. Allelic loss of the retinoblastoma tumor suppressor gene: a marker for aggressive parathyroid tumors? J Clin Endocrinol Metab. 81:1996;3194-3196
40. Shattuck T.M., Valimaki S., Obara T., Gaz R.D., Clark O.H., Shoback D., et al. Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med. 349:2003;1722-1729