메뉴 건너뛰기




Volumn 52, Issue 8, 2008, Pages 1211-1220

HRPT2-related familial isolated hyperparathyroidism: Could molecular studies direct the surgical approach?

Author keywords

FIHP; HRPT2; Jaw tumor; Parafibromin; Parathyroid; Surgery

Indexed keywords


EID: 58849137885     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/s0004-27302008000800003     Document Type: Article
Times cited : (16)

References (44)
  • 1
    • 0242351683 scopus 로고    scopus 로고
    • Update on genetic and clinical aspects of primary hyperparathyroidism
    • Miedlich S, Krohn K, Paschke R. Update on genetic and clinical aspects of primary hyperparathyroidism. Clin Endocrinol. 2003;59(5):539-54.
    • (2003) Clin Endocrinol , vol.59 , Issue.5 , pp. 539-554
    • Miedlich, S.1    Krohn, K.2    Paschke, R.3
  • 3
    • 33746855998 scopus 로고    scopus 로고
    • Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.314
    • Warner JV, Nyholt DR, Busfield F, Epstein M, Burgess J, Stranks S et al. Familial isolated hyperparathyroidism is linked to a 1.7 Mb region on chromosome 2p13.314. J Med Genet. 2006;43(3):e12.
    • (2006) J Med Genet , vol.43 , Issue.3
    • Warner, J.V.1    Nyholt, D.R.2    Busfield, F.3    Epstein, M.4    Burgess, J.5    Stranks, S.6
  • 4
    • 34249001054 scopus 로고    scopus 로고
    • Surgical management of familial hyperparathyroidism
    • Evans DB, Rich TA, Cote GJ. Surgical management of familial hyperparathyroidism. Ann Surg Oncol. 2007;14(2):1525-27.
    • (2007) Ann Surg Oncol , vol.14 , Issue.2 , pp. 1525-1527
    • Evans, D.B.1    Rich, T.A.2    Cote, G.J.3
  • 5
    • 0028958106 scopus 로고
    • Hereditary hyperparathyroidism-jaw tumor syndrome: The endocrine tumor gene HRPT2 maps to chromosome 1q21-q31
    • Szabo J, Heath B, Hill VM, Jackson CE, Zarbo RJ, Mallette LE, et al. Hereditary hyperparathyroidism-jaw tumor syndrome: the endocrine tumor gene HRPT2 maps to chromosome 1q21-q31. Am J Hum Genet. 1995;56(4):944-50.
    • (1995) Am J Hum Genet , vol.56 , Issue.4 , pp. 944-950
    • Szabo, J.1    Heath, B.2    Hill, V.M.3    Jackson, C.E.4    Zarbo, R.J.5    Mallette, L.E.6
  • 7
    • 0025642521 scopus 로고
    • Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: A clinically and genetically distinct syndrome
    • Jackson CE, Norum RA, Boyd SB, Talpos GB, Wilson SD, Taggart RT, et al. Hereditary hyperparathyroidism and multiple ossifying jaw fibromas: a clinically and genetically distinct syndrome. Surgery. 1990;108(6):1006-12.
    • (1990) Surgery , vol.108 , Issue.6 , pp. 1006-1012
    • Jackson, C.E.1    Norum, R.A.2    Boyd, S.B.3    Talpos, G.B.4    Wilson, S.D.5    Taggart, R.T.6
  • 9
    • 0032231883 scopus 로고    scopus 로고
    • A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors
    • Teh BT, Esapa CT, Houlston R, Grandell U, Farnebo F, Nordenskjold M, et al. A family with isolated hyperparathyroidism segregating a missense MEN1 mutation and showing loss of the wild-type alleles in the parathyroid tumors. Am J Hum Genet. 1998;63(5):1544-9.
    • (1998) Am J Hum Genet , vol.63 , Issue.5 , pp. 1544-1549
    • Teh, B.T.1    Esapa, C.T.2    Houlston, R.3    Grandell, U.4    Farnebo, F.5    Nordenskjold, M.6
  • 10
    • 0034006163 scopus 로고    scopus 로고
    • A novel mutation of the MEN 1 gene in a Japanese kindred with familial isolated hyperparathyroidism
    • Honda M, Tsukada T, Tanaka H, Maruyama K, Yamaguchi K, Obara T, et al. A novel mutation of the MEN 1 gene in a Japanese kindred with familial isolated hyperparathyroidism. Eur J Endocrinol. 2000;142(2):138-43.
    • (2000) Eur J Endocrinol , vol.142 , Issue.2 , pp. 138-143
    • Honda, M.1    Tsukada, T.2    Tanaka, H.3    Maruyama, K.4    Yamaguchi, K.5    Obara, T.6
  • 11
    • 0034457762 scopus 로고    scopus 로고
    • Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree
    • Kassem M, Kruse TA, Wong FK, Larsson C, Teh BT. Familial isolated hyperparathyroidism as a variant of multiple endocrine neoplasia type 1 in a large Danish pedigree. J Clin Endocrinol Metab. 2000;85(1):165-7.
    • (2000) J Clin Endocrinol Metab , vol.85 , Issue.1 , pp. 165-167
    • Kassem, M.1    Kruse, T.A.2    Wong, F.K.3    Larsson, C.4    Teh, B.T.5
  • 12
    • 0036228986 scopus 로고    scopus 로고
    • Genetic analysis of the MEN1 gene and HPRT2 locus in two Italian kindreds with familial isolated hyperparathyroidism
    • Cetani F, Pardi E, Giovannetti A, Vignali E, Borsari S, Golia F, et al. Genetic analysis of the MEN1 gene and HPRT2 locus in two Italian kindreds with familial isolated hyperparathyroidism. Clin Endocrinol. 2002;56(4):457-64.
    • (2002) Clin Endocrinol , vol.56 , Issue.4 , pp. 457-464
    • Cetani, F.1    Pardi, E.2    Giovannetti, A.3    Vignali, E.4    Borsari, S.5    Golia, F.6
  • 13
    • 33745207986 scopus 로고    scopus 로고
    • Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome
    • Mizusawa N, Uchino S, Iwata T, Tsuyuguchi M, Suzuki Y, Mizukoshi T, et al. Genetic analyses in patients with familial isolated hyperparathyroidism and hyperparathyroidism-jaw tumour syndrome. Clin Endocrinol. 2006;65(1):9-16.
    • (2006) Clin Endocrinol , vol.65 , Issue.1 , pp. 9-16
    • Mizusawa, N.1    Uchino, S.2    Iwata, T.3    Tsuyuguchi, M.4    Suzuki, Y.5    Mizukoshi, T.6
  • 14
    • 15144343105 scopus 로고    scopus 로고
    • Familial isolated hyperparathyroidism maps to the hyperparathyroidism-jaw tumor locus in 1q21-q32 in a subset of families
    • Teh BT, 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. 1998;83(6):2114-20.
    • (1998) J Clin Endocrinol Metab , vol.83 , Issue.6 , pp. 2114-2120
    • Teh, B.T.1    Farnebo, F.2    Twigg, S.3    Hoog, A.4    Kytola, S.5    Korpi-Hyovalti, E.6
  • 15
    • 17744379773 scopus 로고    scopus 로고
    • A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome
    • Haven CJ, Wong FK, van Dam EW, van der Juijt R, van Asperen C, Jansen J, et al. A genotypic and histopathological study of a large Dutch kindred with hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab. 2000;85(4):1449-54.
    • (2000) J Clin Endocrinol Metab , vol.85 , Issue.4 , pp. 1449-1454
    • Haven, C.J.1    Wong, F.K.2    van Dam, E.W.3    van der Juijt, R.4    van Asperen, C.5    Jansen, J.6
  • 17
    • 0142213734 scopus 로고    scopus 로고
    • Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma
    • Shattuck TM, Valimaki S, Obara T, Gaz RD, Clark OH, Shoback D, et al. Somatic and germ-line mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med. 2003;349 (18):1722-9.
    • (2003) N Engl J Med , vol.349 , Issue.18 , pp. 1722-1729
    • Shattuck, T.M.1    Valimaki, S.2    Obara, T.3    Gaz, R.D.4    Clark, O.H.5    Shoback, D.6
  • 18
    • 24344498667 scopus 로고    scopus 로고
    • HRPT2 mutational analysis of typical sporadic parathyroid adenomas
    • Krebs LJ, Shattuck TM, Arnold A. HRPT2 mutational analysis of typical sporadic parathyroid adenomas. J Clin Endocrinol Metab. 2005;90(9):5015-7.
    • (2005) J Clin Endocrinol Metab , vol.90 , Issue.9 , pp. 5015-5017
    • Krebs, L.J.1    Shattuck, T.M.2    Arnold, A.3
  • 20
    • 14644397229 scopus 로고    scopus 로고
    • Parafibromin, product of the hyperparathyroidism-jaw tumor syndrome gene HRPT2 regulates cyclin D1/PRAD1 expression
    • 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. 2005;24(7):1272-6.
    • (2005) Oncogene , vol.24 , Issue.7 , pp. 1272-1276
    • Woodard, G.E.1    Lin, L.2    Zhang, J.H.3    Agarwal, S.K.4    Marx, S.J.5    Simonds, W.F.6
  • 21
    • 5144220874 scopus 로고    scopus 로고
    • Loss of parafibronnin immunoreactivity is a distinguishing feature of parathyroid carcinoma
    • Tan MH, Morrison C, Wang P, Yang X, Haven CJ, Zhang C, et al. Loss of parafibronnin immunoreactivity is a distinguishing feature of parathyroid carcinoma. Clin Cancer Res. 2004;10 (19):6629-37.
    • (2004) Clin Cancer Res , vol.10 , Issue.19 , pp. 6629-6637
    • Tan, M.H.1    Morrison, C.2    Wang, P.3    Yang, X.4    Haven, C.J.5    Zhang, C.6
  • 23
    • 0034700450 scopus 로고    scopus 로고
    • Hyperparathyroid and hypoparathyroid disorders
    • Marx SJ. Hyperparathyroid and hypoparathyroid disorders. N Engl J Med. 2000;343(25):1863-75.
    • (2000) N Engl J Med , vol.343 , Issue.25 , pp. 1863-1875
    • Marx, S.J.1
  • 24
    • 0033037509 scopus 로고    scopus 로고
    • Improved silica-guanidinium thiocyanate DNA isolation procedure based on selective binding of bovine alphacasein to silica particles
    • Boom R, Sol C, Beld M, Weel J, Goudsmit J, Wertheim-van Dillen P. Improved silica-guanidinium thiocyanate DNA isolation procedure based on selective binding of bovine alphacasein to silica particles J Clin Microbiol. 1999;37(3):615-9.
    • (1999) J Clin Microbiol , vol.37 , Issue.3 , pp. 615-619
    • Boom, R.1    Sol, C.2    Beld, M.3    Weel, J.4    Goudsmit, J.5    Wertheim-van Dillen, P.6
  • 25
    • 8744299920 scopus 로고    scopus 로고
    • Genetic analyses of the HRPT2 gene in primary hyperparathyroidism: Germline and somatic mutations in familial and sporadic parathyroid tumors
    • Cetani F, Pardi E, Borsari S, Viacava P, Dipollina G, Cianferotti L, 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. 2004;89(11):5583-91.
    • (2004) J Clin Endocrinol Metab , vol.89 , Issue.11 , pp. 5583-5591
    • Cetani, F.1    Pardi, E.2    Borsari, S.3    Viacava, P.4    Dipollina, G.5    Cianferotti, L.6
  • 26
    • 5144220874 scopus 로고    scopus 로고
    • Tan MH, Morrison C, Wang P, Yang X, Haven CJ, Zhang C, et al. Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma. Clin Cancer Res. 2004;10 f19:6629-37.
    • Tan MH, Morrison C, Wang P, Yang X, Haven CJ, Zhang C, et al. Loss of parafibromin immunoreactivity is a distinguishing feature of parathyroid carcinoma. Clin Cancer Res. 2004;10 f19):6629-37.
  • 27
    • 34548133107 scopus 로고    scopus 로고
    • A "defined baseline" in PTH monitoring increases surgical success in patients with multiple gland disease
    • Riss P, Kaczirek K, Heinz G, Bieglmayer C, Niederle B. A "defined baseline" in PTH monitoring increases surgical success in patients with multiple gland disease. Surgery. 2007;142(3):398-404.
    • (2007) Surgery , vol.142 , Issue.3 , pp. 398-404
    • Riss, P.1    Kaczirek, K.2    Heinz, G.3    Bieglmayer, C.4    Niederle, B.5
  • 28
    • 0037738834 scopus 로고    scopus 로고
    • 140 consecutive cases of minimally invasive, radioguided parathyroidectomy: Lessons learned and long-term results
    • Shabtai M, Ben-Haim M, Muntz Y, Vered I, Rosin D, Kuriansky J, et al. 140 consecutive cases of minimally invasive, radioguided parathyroidectomy: lessons learned and long-term results. Surg Endosc. 2003;17(5):688-91.
    • (2003) Surg Endosc , vol.17 , Issue.5 , pp. 688-691
    • Shabtai, M.1    Ben-Haim, M.2    Muntz, Y.3    Vered, I.4    Rosin, D.5    Kuriansky, J.6
  • 29
    • 43049117445 scopus 로고    scopus 로고
    • Familial hyperparathyroidism: Surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations
    • Sarquis MS, Silveira LG, Pimenta FJ Dias EP, Teh BT, Friedman E et al. Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations. Surgery. 2008;143(5):630-40.
    • (2008) Surgery , vol.143 , Issue.5 , pp. 630-640
    • Sarquis, M.S.1    Silveira, L.G.2    Pimenta, F.J.3    Dias, E.P.4    Teh, B.T.5    Friedman, E.6
  • 30
    • 34249001054 scopus 로고    scopus 로고
    • Surgical management of familial hyperparathyroidism
    • Evans DB, Rich TA, Cote GJ. Surgical management of familial hyperparathyroidism. Ann Surg Oncol. 2007;14(5):1525-7.
    • (2007) Ann Surg Oncol , vol.14 , Issue.5 , pp. 1525-1527
    • Evans, D.B.1    Rich, T.A.2    Cote, G.J.3
  • 31
    • 36549013099 scopus 로고    scopus 로고
    • Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism
    • lacobone M, Barzon L, Porzionato A, Masi G, Macchi V, Marino F, et al. Parafibromin expression, single-gland involvement, and limited parathyroidectomy in familial isolated hyperparathyroidism. Surgery. 2007;142(6):984-91.
    • (2007) Surgery , vol.142 , Issue.6 , pp. 984-991
    • lacobone, M.1    Barzon, L.2    Porzionato, A.3    Masi, G.4    Macchi, V.5    Marino, F.6
  • 32
    • 12344296364 scopus 로고    scopus 로고
    • Parathyroid surgery in familial hyperparathyroid disorders
    • Carling T, Udelsman R. Parathyroid surgery in familial hyperparathyroid disorders. J Intern Med. 2005;257(1):27-37.
    • (2005) J Intern Med , vol.257 , Issue.1 , pp. 27-37
    • Carling, T.1    Udelsman, R.2
  • 33
    • 0038332150 scopus 로고    scopus 로고
    • Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism
    • Pannett AA, Kennedy AM, Turner JJ Forbes SA, Cavaco BM, Bassett JH, et al. Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol. 2003;58(5):639-46.
    • (2003) Clin Endocrinol , vol.58 , Issue.5 , pp. 639-646
    • Pannett, A.A.1    Kennedy, A.M.2    Turner, J.J.3    Forbes, S.A.4    Cavaco, B.M.5    Bassett, J.H.6
  • 34
    • 33747668789 scopus 로고    scopus 로고
    • Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: Implications for cancer surveillance
    • Guarnieri V, Scillitani A, Muscarella LA, Battista C, Bonfitto N, Bisceglia M, et al. Diagnosis of parathyroid tumors in familial isolated hyperparathyroidism with HRPT2 mutation: implications for cancer surveillance. J Clin Endocrinol Metab. 2006;91(8):2861-3.
    • (2006) J Clin Endocrinol Metab , vol.91 , Issue.8 , pp. 2861-2863
    • Guarnieri, V.1    Scillitani, A.2    Muscarella, L.A.3    Battista, C.4    Bonfitto, N.5    Bisceglia, M.6
  • 35
    • 33745884079 scopus 로고    scopus 로고
    • Surgical approach to the patient with familial hyperparathyroidism
    • VanderWalde LH, Haigh PI. Surgical approach to the patient with familial hyperparathyroidism. Curr Treat Options Oncol. 2006;7(4):326-32.
    • (2006) Curr Treat Options Oncol , vol.7 , Issue.4 , pp. 326-332
    • VanderWalde, L.H.1    Haigh, P.I.2
  • 36
    • 58849103706 scopus 로고    scopus 로고
    • Scillitani A, Guarnieri V, Bisceglia M, Bonfitoo N, Cetani F, Marcocci C, et al. Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations. Letter to the Editor - Surgery (ahead of publication)
    • Scillitani A, Guarnieri V, Bisceglia M, Bonfitoo N, Cetani F, Marcocci C, et al. Familial hyperparathyroidism: surgical outcome after 30 years of follow-up in three families with germline HRPT2 mutations. Letter to the Editor - Surgery (ahead of publication)
  • 37
    • 34547804216 scopus 로고    scopus 로고
    • Different somatic alterations of the HRPT2 gene in a patient with recurrent sporadic primary hyperparathyroidism carrying an HRPT2 germline mutation
    • Cetani F, Pardi E, Ambrogini E, Viacava P, Borsari S, Lemmi M, et al. Different somatic alterations of the HRPT2 gene in a patient with recurrent sporadic primary hyperparathyroidism carrying an HRPT2 germline mutation. Endocr Relat Cancer. 2007;14(2):493-9.
    • (2007) Endocr Relat Cancer , vol.14 , Issue.2 , pp. 493-499
    • Cetani, F.1    Pardi, E.2    Ambrogini, E.3    Viacava, P.4    Borsari, S.5    Lemmi, M.6
  • 38
    • 33846626413 scopus 로고    scopus 로고
    • Radioguided parathyroidectomy in patients with familial hyperparathyroidism
    • Lal A, Bianco J, Chen H. Radioguided parathyroidectomy in patients with familial hyperparathyroidism. Ann Surg Oncol. 2007;14(2):739-43.
    • (2007) Ann Surg Oncol , vol.14 , Issue.2 , pp. 739-743
    • Lal, A.1    Bianco, J.2    Chen, H.3
  • 39
    • 33749257125 scopus 로고    scopus 로고
    • Surveillance for early detection of aggressive parathyroid disease: Carcinoma and atypical adenoma in familial isolated hyperparathyroidism associated with a germline HRPT2 mutation
    • Kelly TG, Shattuck TM, Reyes-Mugica M, Stewart AF, Simonds WF, Udelsman R, 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 Min Res. 2006;21(10):1666-71.
    • (2006) J Bone Min Res , vol.21 , Issue.10 , pp. 1666-1671
    • Kelly, T.G.1    Shattuck, T.M.2    Reyes-Mugica, M.3    Stewart, A.F.4    Simonds, W.F.5    Udelsman, R.6    et., al.7
  • 40
    • 20044362410 scopus 로고    scopus 로고
    • A novel IVS2-IGOA mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome
    • Moon SD, Park JH, Kim EM, Kim JH, Han JH, Yoo SJ, et al. A novel IVS2-IGOA mutation causes aberrant splicing of the HRPT2 gene in a family with hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab. 2005;90(2):878-83.
    • (2005) J Clin Endocrinol Metab , vol.90 , Issue.2 , pp. 878-883
    • Moon, S.D.1    Park, J.H.2    Kim, E.M.3    Kim, J.H.4    Han, J.H.5    Yoo, S.J.6
  • 41
    • 2942513691 scopus 로고    scopus 로고
    • Germline and de novo mutations in the HRPT2 tumor suppressor gene in familial isolated hyperparathyroidism (FIHP)
    • Villablanca A, Calender A, Forsberg L, Hoog A, Cheng JD, Petillo D, et al. Germline and de novo mutations in the HRPT2 tumor suppressor gene in familial isolated hyperparathyroidism (FIHP) J Med Genetics. 2004;41:e32.
    • (2004) J Med Genetics , vol.41
    • Villablanca, A.1    Calender, A.2    Forsberg, L.3    Hoog, A.4    Cheng, J.D.5    Petillo, D.6
  • 42
    • 0036915370 scopus 로고    scopus 로고
    • Limited versus radical parathyreoidectomy in familial isolated primary hyperparathyroidism
    • Carneiro DM, Irvin GL, Inabnet WB. Limited versus radical parathyreoidectomy in familial isolated primary hyperparathyroidism. Surgery. 2002;132(6):1050-5.
    • (2002) Surgery , vol.132 , Issue.6 , pp. 1050-1055
    • Carneiro, D.M.1    Irvin, G.L.2    Inabnet, W.B.3
  • 43
    • 0037313436 scopus 로고    scopus 로고
    • Limitations of technetium 99m sestamibi scintigraphic localization for primary hyperparathyroidism associated with multiglandular disease
    • Katz SC, Wang GJ, Kramer EL, Roses DF. Limitations of technetium 99m sestamibi scintigraphic localization for primary hyperparathyroidism associated with multiglandular disease. Am Surg. 2003;69(2):170-5.
    • (2003) Am Surg , vol.69 , Issue.2 , pp. 170-175
    • Katz, S.C.1    Wang, G.J.2    Kramer, E.L.3    Roses, D.F.4
  • 44
    • 0021879645 scopus 로고
    • Hereditary cancer, oncogenes, and antioncogenes
    • Knudson AG Jr. Hereditary cancer, oncogenes, and antioncogenes. Cancer Res. 1985;45(4):1437-43.
    • (1985) Cancer Res , vol.45 , Issue.4 , pp. 1437-1443
    • Knudson Jr., A.G.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.