HRPT2 gene analysis and the diagnosis of parathyroid carcinoma

Expert Review of Endocrinology and Metabolism

Volumn 3, Issue 3, 2008, Pages 377-389

  Cetani, Filomena ^a   Pardi, Elena ^b   Banti, Chiara ^b   Borsari, Simona ^b   Ambrogini, Elena ^b   Vignali, Edda ^b   Cianferotti, Luisella ^b   Viccica, Giuseppe ^b   Pinchera, Aldo ^b   Marcocci, Claudio ^b  

^a Department of Endocrinology and Metabolism ^*  (Italy)

^b UNIVERSITY OF PISA   (Italy)

Author keywords

catenin; CDC73; HRPT2; Parafibromin; Parathyroid carcinoma; Parathyroid tumorigenesis; Primary hyperparathyroidism; Wnt pathway

Indexed keywords

NUCLEAR PROTEIN; PARAFIBROMIN; PROTEIN HRPT2; RETINOBLASTOMA PROTEIN; TUMOR SUPPRESSOR PROTEIN; UNCLASSIFIED DRUG;

ADENOMA; CELLULAR DISTRIBUTION; DIAGNOSTIC ACCURACY; DIAGNOSTIC VALUE; ELECTRON MICROSCOPY; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; HISTOPATHOLOGY; HUMAN; HYPERPARATHYROIDISM JAW TUMOR SYNDROME; IMMUNOHISTOCHEMISTRY; IMMUNOREACTIVITY; MOLECULAR CLONING; MOLECULAR DYNAMICS; NONHUMAN; PARATHYROID CARCINOMA; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; REVIEW; THYROID DISEASE;

EID: 55649087320     PISSN: 17446651     EISSN: None     Source Type: Journal    
DOI: 10.1586/17446651.3.3.377     Document Type: Review

References (58)

1. Shane E. Clinical review 122: Parathyroid carcinoma. J. Clin. Endocrinol. Metab. 86(2), 485-493 (2001).
2. DeLellis RA. Parathyroid carcinoma. An overview. Adv. Anat. Pathol. 12(2), 53-61 (2005).
3. Bondenson L, Grimelius L, DeLellis RA et al. Parathyroid carcinoma. In: Pathology and Genetics. Tumours of Endocrine Organs. WHO Classification of Tumours. DeLellis RA, Lloyd RV, Heitz PU, Eng C (Eds). IARC Press, Lyon, France 124-127 (2004).
4. Arnold A, Shattuck TM, Mallya SM et al. Molecular pathogenesis of primary hyperparathyroidism. J. Bone Miner. Res. 17(Suppl. 2) N30-N36 (2002).
5. Cetani F, Pardi E, Borsari S et al. Parathyroid tumorigenesis. Clin. Case Min. Bone Metab. 3 (2), 123-131 (2006).
6. Carpten JD, Robbins CM, Villablanca A et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumors syndrome. Nat. Genet. 32(4), 676-680 (2002).
7. Schantz A, Castleman B. Parathyroid carcinoma. A study of 70 cases. Cancer 31(3), 600-605 (1973).
8. Smith JF, Coombs RR. Histological diagnosis of carcinoma of the parathyroid gland. J. Clin. Pathol. 37(12), 1370-1378 (1984).
9. Jacobi JM, Lloyd HM, Smith JF et al. Nuclear diameter in parathyroid carcinomas. J. Clin. Pathol. 39(12), 1353-1354 (1986).
10. Cryns VL, Thor A, Xu HJ et al. Loss of the retinoblastoma tumor-suppressor gene in parathyroid carcinoma. N. Engl. J. Med. 330(11), 757-761 (1994).
11. Dotzenrath C, Teh T, Farnebo F et al. Allelic loss of the retinoblastoma tumor suppressor gene: A marker for aggressive parathyroid tumors? J. Clin. Endocrinol. Metab. 81(9), 3194-3196 (1996).
12. Pearce SH, Trump D, Wooding W, Sheppard MN, Clayton RN, Thakker RV. Loss of heterozygosity study at the retinoblastoma and breast cancer susceptibility (BRCA2) loci in pituitary, parathyroid, pancreatic and carcinoid tumors. Clin. Endocrinol. 45(2), 195-200 (1996).
13. Farnebo F, Auer G, Farnebo LO et al. Evaluation of retinoblastoma and Ki-67 immunostaining as diagnostic markers of benign and malignant parathyroid disease. World J. Surg. 23(1), 68-74 (1999).
14. Cetani F, Pardi E, Viacava P et al. A reappraisal of the Rb1 gene abnormalities in the diagnosis of parathyroid cancer. Clin. Endocrinol. 60(1), 99-106 (2004).
15. Shattuck TM, Kim TS, Costa J et al. Mutational analyses of RB and BRCA2 as candidate tumour suppressor genes in parathyroid carcinoma. Clin. Endocrinol. 59(2), 180-189 (2003).
16. Abbona GC, Papotti M, Gasparri G, Bussolati G. Proliferative activity in parathyroid tumors as detected by Ki-67 immunostaining. Hum. Pathol. 26(2), 135-138 (1995).
17. Lloyd RV, Carney JA, Ferreiro JA et al. Immunohistochemical analysis of the cell cycle-associated antigens Ki-67 and retinoblastoma protein in parathyroid carcinomas and adenomas. Endocr. Pathol. 6(4), 279-287 (1995).
18. Vargas MP, Vargas HI, Kleiner DE, Merino MJ. The role of prognostic markets (MiB-1, RB, and bcl-2) in the diagnosis of parathyroid tumors. Mod. Pathol. 10(1), 12-17(1997).
19. Erickson LA, Jin L, Wollan P, Thompson GB, van Heerden JA, Lloyd RV. Parathyroid hyperplasia, adenomas, and carcinomas: Differential expression of p27Kip1 protein. Am. J. Surg. Pathol. 23(3), 288-295 (1999).
20. Naccarato AG, Marcocci C, Miccoli P et al. Bcl-2, p53 and MIB-1 expression in normal and neoplastic parathyroid tissues. J. Endocrinol. Invest. 21(3), 136-141 (1998).
21. Bergero N, De Pompa R, Sacerdote C et al. Galectin-3 expression in parathyroid carcinoma immunohistochemical study of 26 cases. Hum. Pathol. 36(8), 908-914 (2005).
22. Haven CJ, van Puijenbroek M, Karperien M, Fleuren GJ, Morreau H. Differential expression of the calcium sensing receptor and combined loss of chromosomes 1q and 11q in parathyroid carcinoma. J. Pathol. 202(1), 86-94 (2004).
23. Zhu B, Mandal SS, Pham AD et al. The human PAF complex coordinates transcription with events downstream of RNA synthesis. Genes Dev. 19(14), 1668-1673 (2005).
24. Chaudhary K, Deb S, Moniaux N, Ponnusamy MB, Batra SK. Human RNA polymerase II-associated factor complex: Dysregulation in cancer. Oncogene 26(54), 7499-7507 (2007).
25. Rozenblatt-Rosen O, Hughes CM, Nannepaga SJ et al. The parafibromin tumor suppressor protein is part of a human Paf1 complex. Mol. Cell. Biol. 25(2), 612-620 (2005).
26. Yart A, Gstaiger M, Wirbelauer C et al. The HRPT2 tumor suppressor gene product parafibromin associates with human PAF1 and RNA polymerase II. Mol. Cell. Biol. 25(12), 5052-5060 (2005).
27. Hahn MA, Marsh DJ. Identification of a functional bipartite nuclear localization signal in the tumor suppressor parafibromin. Oncogene 24 (41), 6241-6248 (2005).
28. Woodard GE, Lin L, Zhang JH, Agarwal SK, Marx SJ, Simonds WF. Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2, regulates cyclin D1/PRAD1 expression. Oncogene 24(7), 1272-1276 (2005).
29. Lin L, Czapiga M, Nini L, Zhang JH, Simonds WF. Nuclear localization of the parafibromin tumor suppressor protein implicated in the hyperparathyroidism-jaw tumor syndrome enhances its proapoptotic function. Mol. Cancer Res. 5(2), 183-193 (2007).
30. Bradley KJ, Bowl MR, Williams SE et al. Parafibromin is a nuclear protein with a functional monopartite nuclear localization signal. Oncogene 26(8), 1213-1221 (2007).
31. Tran EJ, Wente SR. Dynamic nuclear pore complexes: Life on the edge. Cell 125(6), 1041-153 (2006).
32. Hahn MA, Marsh DJ. Nucleolar localization of parafibromin is mediated by three nucleolar localization signals. FEBS Lett. 581(26), 5070-5074 (2007).
33. Zhang C, Kong D, Tan MH et al. Parafibromin inhibits cancer cell growth and causes G1 phase arrest. Biochem. Biophys. Res. Commun. 350(1), 17-24 (2006).
34. Iwata T, Mizusawa N, Taketani Y, Itakura M, Yoshimoto K. Parafibromin tumor suppressor enhances cell growth in the cells expressing SV40 large T antigen. Oncogene 26(42), 6176-6183 (2007).
35. Rowland BD, Bernards R, Peeper DS. The KLF4 tumour suppressor is a transcriptional repressor of p53 that acts as a context-dependent oncogene. Nat. Cell. Biol. 7(11), 1074-1082 (2005).
36. Yokoyama A, Somervaille TC, Smith KS, Rozenblatt-Rosen O, Meyerson M, Cleary ML. The menin tumor suppressor protein is an essential oncogenic cofactor for MLL-associated leukemogenesis. Cell 123(2), 207-18 (2005).
37. Mosimann C, Hausmann G, Basler K. Parafibromin/Hyrax activates Wnt/Wg target gene transcription by direct association with β-catenin/ Armadillo. Cell 125(2), 327-341 (2006).
38. Howell VM, Haven CJ, Kahnoski K et al. HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. J. Med. Genet. 40(9), 657-663 (2003).
39. 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(11), 5583-5591 (2004).
40. Simonds WF, Robbins CM, Agarwal SK, Hendy GN, Carpten JD, Marx SJ. Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J. Clin. Endocrinol. Metab. 89(1), 96-102 (2004).
41. Warner J, Epstein M, Sweet A et al. Genetic testing in familial isolated hyperparathyroidism: Unexpected results and their implications. J. Med. Genet. 41(3), 155-60 (2004).
42. Villablanca A, Calender A, Forsberg L et al. Germline and de novo mutations in the HRPT2 tumour suppressor gene in familial isolated hyperparathyroidism (FIHP). J. Med. Genet. 41(3), e32 (2004).
43. Bradley KJ, Cavaco BM, Bowl MR, Harding B, Young A, Thakker RV. Utilisation of a cryptic non-canonical donor splice site of the gene encoding parafibromin is associated with familial isolated primary hyperparathyroidism. J. Med. Genet. 42(8), e51 (2005).
44. Bradley KJ, Cavaco BM, Bowl MR et al. Parafibromin mutations in hereditary hyperparathyroidism syndromes and parathyroid tumours. Clin. Endocrinol. 64(3), 299-306 (2006).
45. Guarnieri V, Scillitani A, Muscarella LA et al. Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: Implications for cancer surveillance. J. Clin. Endocrinol. Metab. 91(8), 2827-2832 (2006).
46. Mizusawa N, Uchino S, Iwata T et al. Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clin Endocrinol. 65(1), 9-16 (2006).
47. Kelly TG, Shattuck TM, Reyes-Mugica M et al. Surveillance for early detection of aggressive parathyroid disease: Carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation. J. Bone Miner. Res. 21(10), 1666-1671 (2006).
48. Shattuck TM, Valimaki S, Obara T et al. Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N. Engl. J. Med. 349(18), 1722-1729 (2003).
49. Rubin MR, Silverberg SJ. EditoAial: HRPT2 in parathyroid cancer: a piece of the puzzle. J. Clin. Endocrinol. Metab. 90(9), 5505-5507 (2005).
50. Cetani F, Ambrogini E, Viacava P et al. Should parafibromin staining replace HRPT2 gene analysis as an additional tool for histologic diagnosis of parathyroid carcinoma? Eur. J. Endocrinol. 156(5), 547-554 (2007).
51. Haven CJ, van Puijenbroek M, Tan MH et al. Identification of MEN1 and HRPT2 somatic mutations in paraffin-embedded (sporadic) parathyroid carcinomas. Clin. Endocrinol. 67(3), 370-376 (2007).
52. Krebs LJ, Shattuck TM, Arnold A. HRPT2 mutational analysis of typical sporadic parathyroid adenomas. J. Clin. Endocrinol. Metab. 90(9), 5505-5507 (2005).
53. Tan MH, Morrison C, Wang P et al. Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma. Clin. Cancer Res. 10(19), 6629-6637 (2004).
54. Gill AJ, 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(9), 1140-1149 (2006).
55. Juhlin CC, Villablanca A, Sandelin K et al. Parafibromin immunoreactivity: Its use as an additional diagnostic marker for parathyroid tumor classification. Endocr. Relat. Cancer 14(2), 501-512 (2007).
56. Juhlin CC, Larsson C, Yakoleva T et al. Loss of parafibromin expression in a subset of parathyroid adenomas. Endocr. Relat. Cancer 13(2), 509-523 (2006).
57. Adami S, Marcocci C, Gatti D. Epidemiology of primary hyperparathyroidism in Europe. J. Bone Miner. Res. 17(Suppl. 2), N18-N23 (2002).
58. Marx SJ. Hyperparathyroid and hypoparathyroid disorders. N. Engl. J. Med. 343(25), 1863-1875 (2000).