Familial disorders of the parathyroid gland

Diagnostic Histopathology

Volumn 15, Issue 2, 2009, Pages 79-86

  Erickson, Lori A ^a   Lloyd, Ricardo V ^a  

^a MAYO CLINIC   (United States)

Author keywords

adenoma; carcinoma; familial hyperparathyroidism; hyperparathyroidism; hyperplasia; hypoparathyroidism; multiple endocrine neoplasia; parathyroid

Indexed keywords

ARTICLE; CALCIUM SENSING RECEPTOR GENE; FAMILIAL DISEASE; FAMILIAL ISOLATED HYPERPARATHYROIDISM; GENE; GENE MUTATION; HISTOPATHOLOGY; HRPT2 GENE; HUMAN; HYPERPARATHYROIDISM JAW TUMOR SYNDROME; HYPERTHYROIDISM; HYPOTHYROIDISM; JAW TUMOR; MEN 1 GENE; MULTIPLE ENDOCRINE NEOPLASIA; ONCOGENE RET; PARATHYROID CARCINOMA; PARATHYROID DISEASE; PARATHYROID TUMOR; RECEPTOR GENE; SIPPLE SYNDROME; SPORADIC PARATHYROID CARCINOMA;

EID: 61649109954     PISSN: 17562317     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mpdhp.2009.01.001     Document Type: Article

References (52)

1. Marx S.J., Agarwal S.K., Kester M.B., et al. Multiple endocrine neoplasia type 1: clinical and genetic features of the hereditary endocrine neoplasias. Recent Prog Horm Res 54 (1999) 397-438 discussion 438-9
2. Brandi M.L., Gagel R.F., Angeli A., et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86 (2001) 5658-5671
3. Shen H.C., Rosen J.E., Yang L.M., et al. Parathyroid tumor development involves deregulation of homeobox genes. Endocr Relat Cancer 15 (2008) 267-275
4. Agarwal S.K., Lee Burns A., Sukhodolets K.E., et al. Molecular pathology of the MEN1 gene. Ann N Y Acad Sci 1014 (2004) 189-198
5. Lemos M.C., and Thakker R.V. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat 29 (2008) 22-32
6. Guo S.S., and Sawicki M.P. Molecular and genetic mechanisms of tumorigenesis in multiple endocrine neoplasia type-1. Mol Endocrinol 15 (2001) 1653-1664
7. Klein R.D., Salih S., Bessoni J., and Bale A.E. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genet Med 7 (2005) 131-138
8. Ellard S., Hattersley A.T., Brewer C.M., and Vaidya B. Detection of an MEN1 gene mutation depends on clinical features and supports current referral criteria for diagnostic molecular genetic testing. Clin Endocrinol (Oxf) 62 (2005) 169-175
9. Scarpelli D., D'Aloiso L., Arturi F., et al. Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics. J Endocrinol Invest 27 (2004) 1015-1021
10. Haven C.J., Howell V.M., Eilers P.H., et al. Gene expression of parathyroid tumors: molecular subclassification and identification of the potential malignant phenotype. Cancer Res 64 (2004) 7405-7411
11. Haven C.J., van Puijenbroek M., Tan M.H., et al. Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas. Clin Endocrinol (Oxf) 67 (2007) 370-376
12. Arnold A., Shattuck T.M., Mallya S.M., et al. Molecular pathogenesis of primary hyperparathyroidism. J Bone Miner Res 17 Suppl. 2 (2002) N30-N36
13. Erickson L.A., Jalal S.M., Harwood A., Shearer B., Jin L., and Lloyd R.V. Analysis of parathyroid neoplasms by interphase fluorescence in situ hybridization. Am J Surg Pathol 28 (2004) 578-584
14. Hsi E.D., Zukerberg L.R., Yang W.I., and Arnold A. Cyclin D1/PRAD1 expression in parathyroid adenomas: an immunohistochemical study. J Clin Endocrinol Metab 81 (1996) 1736-1739
15. Oishi S., Sato T., Takiguchi-Shirahama S., and Nakamura Y. Mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A (Sipple's syndrome). Endocr J 42 (1995) 527-536
16. Machens A., and Dralle H. Genotype-phenotype based surgical concept of hereditary medullary thyroid carcinoma. World J Surg 31 (2007) 957-968
17. Eng C., Clayton D., Schuffenecker I., et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. J Am Med Assoc 276 (1996) 1575-1579
18. Kimura T., Yoshimoto K., Tanaka C., et al. Obvious mRNA and protein expression but absence of mutations of the RET proto-oncogene in parathyroid tumors. Eur J Endocrinol 134 (1996) 314-319
19. Aida K., Koishi S., Tawata M., and Onaya T. Molecular cloning of a putative Ca(2+)-sensing receptor cDNA from human kidney. Biochem Biophys Res Commun 214 (1995) 524-529
20. Kifor O., Moore Jr. F.D., Delaney M., et al. A syndrome of hypocalciuric hypercalcemia caused by autoantibodies directed at the calcium-sensing receptor. J Clin Endocrinol Metab 88 (2003) 60-72
21. Aida K., Koishi S., Inoue M., Nakazato M., Tawata M., and Onaya T. Familial hypocalciuric hypercalcemia associated with mutation in the human Ca(2+)-sensing receptor gene. J Clin Endocrinol Metab 80 (1995) 2594-2598
22. Pearce S.H., Williamson C., Kifor O., et al. A familial syndrome of hypocalcemia with hypercalciuria due to mutations in the calcium-sensing receptor. N Engl J Med 335 (1996) 1115-1122
23. Janicic N., Soliman E., Pausova Z., et al. Mapping of the calcium-sensing receptor gene (CASR) to human chromosome 3q13.3-21 by fluorescence in situ hybridization, and localization to rat chromosome 11 and mouse chromosome 16. Mamm Genome 6 (1995) 798-801
24. Cole D.E., Janicic N., Salisbury S.R., and Hendy G.N. Neonatal severe hyperparathyroidism, secondary hyperparathyroidism, and familial hypocalciuric hypercalcemia: multiple different phenotypes associated with an inactivating Alu insertion mutation of the calcium-sensing receptor gene. Am J Med Genet 71 (1997) 202-210
25. Hauache O.M. Extracellular calcium-sensing receptor: structural and functional features and association with diseases. Braz J Med Biol Res 34 (2001) 577-584
26. Hellman P., Carling T., Rask L., and Akerstrom G. Pathophysiology of primary hyperparathyroidism. Histol Histopathol 15 (2000) 619-627
27. De Luca F., and Baron J. Molecular biology and clinical importance of the Ca(2+)-sensing receptor. Curr Opin Pediatr 10 (1998) 435-440
28. Rodriguez Soriano J. Neonatal hypercalcemia. J Nephrol 16 (2003) 606-608
29. Hosokawa Y., Pollak M.R., Brown E.M., and Arnold A. Mutational analysis of the extracellular Ca(2+)-sensing receptor gene in human parathyroid tumors. J Clin Endocrinol Metab 80 (1995) 3107-3110
30. Thompson D.B., Samowitz W.S., Odelberg S., Davis R.K., Szabo J., and Heath III H. 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
31. Warner J.V., Nyholt D.R., Busfield F., et al. Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.3-14. J Med Genet 43 (2006) e12
32. Wassif W.S., Moniz C.F., Friedman E., et al. Familial isolated hyperparathyroidism: a distinct genetic entity with an increased risk of parathyroid cancer. J Clin Endocrinol Metab 77 (1993) 1485-1489
33. Simonds W.F., Robbins C.M., Agarwal S.K., Hendy G.N., Carpten J.D., and Marx S.J. Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab 89 (2004) 96-102
34. Marx S.J. Hyperparathyroid and hypoparathyroid disorders. N Engl J Med 343 (2000) 1863-1875
35. Cetani F., Pardi E., Borsari S., et al. Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: germline and somatic mutations in familial and sporadic parathyroid tumors. J Clin Endocrinol Metab 89 (2004) 5583-5591
36. Carpten J.D., Robbins C.M., Villablanca A., et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 32 (2002) 676-680
37. Szabo J., Heath B., Hill V.M., 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
38. Bondeson L., Grimelius L., DeLellis R.A., et al. Parathyroid carcinoma. In: DeLellis R.A., Lloyd R.V., Heitz P.U., and Eng C. (Eds). Pathology and genetics of tumours of endocrine organs (2004), IARC Press, Lyon 124-132
39. Erickson L.A., Jin L., Wollan P., Thompson G.B., van Heerden J.A., and Lloyd R.V. Parathyroid hyperplasia, adenomas, and carcinomas: differential expression of p27Kip1 protein. Am J Surg Pathol 23 (1999) 288-295
40. Alwaheeb S., Rambaldini G., Boerner S., Coire C., Fiser J., and Asa S.L. Worrisome histologic alterations following fine-needle aspiration of the parathyroid. J Clin Pathol 59 (2006) 1094-1096
41. Shattuck T.M., Valimaki S., Obara T., et al. Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med 349 (2003) 1722-1729
42. Krebs L.J., Shattuck T.M., and Arnold A. HRPT2 mutational analysis of typical sporadic parathyroid adenomas. J Clin Endocrinol Metab 90 (2005) 5015-5017
43. Tan M.H., Morrison C., Wang P., et al. Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma. Clin Cancer Res 10 (2004) 6629-6637
44. Gill A.J., Clarkson A., Gimm O., et al. Loss of nuclear expression of parafibromin distinguishes parathyroid carcinomas and hyperparathyroidism-jaw tumor (HPT-JT) syndrome-related adenomas from sporadic parathyroid adenomas and hyperplasias. Am J Surg Pathol 30 (2006) 1140-1149
45. Tominaga Y., Tsuzuki T., Matsuoka S., et al. Expression of parafibromin in distant metastatic parathyroid tumors in patients with advanced secondary hyperparathyroidism due to chronic kidney disease. World J Surg 32 (2008) 815-821
46. Juhlin C., Larsson C., Yakoleva T., et al. Loss of parafibromin expression in a subset of parathyroid adenomas. Endocr Relat Cancer 13 (2006) 509-523
47. Cryns V.L., Rubio M.P., Thor A.D., Louis D.N., and Arnold A. p53 abnormalities in human parathyroid carcinoma. J Clin Endocrinol Metab 78 (1994) 1320-1324
48. Cryns V.L., Thor A., Xu H.J., et al. Loss of the retinoblastoma tumor-suppressor gene in parathyroid carcinoma. N Engl J Med 330 (1994) 757-761
49. Yagi H., Furutani Y., Hamada H., et al. Role of TBX1 in human del22q11.2 syndrome. Lancet 362 (2003) 1366-1373
50. Parvari R., Hershkovitz E., Grossman N., et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nat Genet 32 (2002) 448-452
51. Schumann C., Faust M., Gerharz M., Ortmann M., Schubert M., and Krone W. Autoimmune polyglandular syndrome associated with idiopathic giant cell myocarditis. Exp Clin Endocrinol Diabetes 113 (2005) 302-307
52. Goswami R., Brown E.M., Kochupillai N., et al. Prevalence of calcium sensing receptor autoantibodies in patients with sporadic idiopathic hypoparathyroidism. Eur J Endocrinol 150 (2004) 9-18