MEN1 gene analysis in patients with primary hyperparathyroidism: 10-Year experience of a single institution for thyroid and parathyroid care in Japan

Endocrine Journal

Volumn 56, Issue 5, 2009, Pages 649-656

  Kihara, Minoru ^a   Miyauchi, Akira ^a   Ito, Yasuhiro ^a   Yoshida, Hiroshi ^a   Miya, Akihiro ^a   Kobayashi, Kaoru ^a   Takamura, Yuuki ^a   Fukushima, Mitsuhiro ^a   Inoue, Hiroyuki ^a   Higashiyama, Takuya ^a   Tomoda, Chisato ^a  

^a KUMA HOSPITAL   (Japan)

Author keywords

MEN1 gene analysis; Primary hyperparathyroidism

Indexed keywords

ADULT; AGED; ARTICLE; CLINICAL ARTICLE; CLINICAL FEATURE; EXPERIENCE; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; HUMAN; HYPERPARATHYROIDISM; JAPAN; MALE; MEN1 GENE; MULTIPLE ENDOCRINE NEOPLASIA; PARATHYROID GLAND; THYROID GLAND;

ADULT; AGED; EARLY DETECTION OF CANCER; FEMALE; GENETIC SCREENING; HUMANS; HYPERPARATHYROIDISM, PRIMARY; JAPAN; MALE; MIDDLE AGED; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; PARATHYROIDECTOMY; SEQUENCE ANALYSIS, DNA;

EID: 69249219114     PISSN: 09188959     EISSN: 13484540     Source Type: Journal    
DOI: 10.1507/endocrj.K08E-265     Document Type: Article

References (34)

1. Hoff AO, Cote GJ, Gagel RF (2000) Multiple endocrine neoplasias. Annu Rev Physiol. 67: 377-411.
2. Schussheim DH, Skarulis MC, Agarwal SK, Simonds WF, Burns AL, Spiegel AM, Marx SJ (2001) Multiple endocrine neoplasia type 1: new clinical and basic findings. Trends Endocrinol Metab. 12: 173-178. (Pubitemid 33713559)
3. Morelli A, Falchetti A, Martineti V, Becherini L, Mark M, Friedman E, Brandi ML (2000) MEN1 gene mutation analysis in Italian patients with multiple endocrine neoplasia 1. Eur J Endocrinol 142: 131-137. (Pubitemid 30121025)
4. Chandrasekharappa SC, Guru SC, Manicknam P, Olufemi SE, Collins FS, Emmert-Buck MR, Debelenko LV, Zhuang Z, Lubensky IA, Liotta LA, Crabtree IS, Wang Y, Roe BA, Weisemann J, Boguski MS, Agarwal SK, Kester MB, Kim YS, Heppner C, Dong Q, Spiegel AM, Burns AL, Marx SJ (1997) Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 276: 404-407. (Pubitemid 27180699)
5. The European Consortium on MEN1 (1997) Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. J Int Medicine 243: 1177-1183.
6. Kim YS, Burns AL, Goldsmith PK, Heppner C, Park SY, Chandrasekharappa SC, Collins FS, Spiegel AM, Marx SJ (1999) Stable overexpression of MEN1 suppresses tumorgenicity of RAS. Oncogene 18: 5936-5942. (Pubitemid 29520449)
7. Stalberg P, Grimfjärd P, Santesson M, Zhou Y, Lindberg D, Gobl A, Oberg K, Westin G, Rastad J, Wang S, Skogseid B (2004) Transfection of the multiple endocrine neoplasia type 1 gene to a human endocrine pancreatic tumor cell line inhibits cell growth and affects expression of JunD delta-like protein 1/preadipocyte factor-1, proliferating cell nuclear antigen, and QM/jif-1. J Clin Endocrinol Metab 89: 2326-2337. (Pubitemid 38619871)
8. Milne TA, Hughes CM, Lloyd R, Yang Z, Rozenblatt-Rosen O, Dou Y, Schnepp RW, Krankel C, Livolsi VA, Gibbs D, Hua X, Roeder RG, Meyerson M, Hess JL (2005) Menin and MLL cooperatively regulate expression of cyclin-dependent kinase inhibitors. Proc Natl Acad Sci USA 102:749-752. (Pubitemid 40282737)
9. Crabtree JS, Scacheri PC, Ward JM, Garrett-Beal L, Emmert-Buck MR, Edgemon KA, Lorang D, Libutti SK, Chandrasekharappa SC, Marx SJ, Spiegel AM, Collins FS (2001) A mouse model of MEN1 develops multiple endocrine tumors. Proc Natl Acad Sci USA 98: 1118-1123.
10. Crabtree JS, Scacheri PC, Ward JM, McNally SR, Swain GP, Montagna C, Hager JH, Hanahan D, Edlund H, Magnuson MA, Garrett-Beal L, Burns AL, Ried T, Chandrasekharappa SC, Marx SJ, Spiegel AM, Collins FS (2003) Of mice and MEN1: insulinomas in a conditional mouse knockout. Mol Cel Biol 23: 6075-6085. (Pubitemid 37013087)
11. Komminoth P, Heitz PU, Kloppel G (1998) Pathology of MEN-1: morphology, clinicopathologic correlations and tumor development. J Intern Med 243: 455-464. (Pubitemid 28312241)
12. Farnebo F, The BT, Kyotola S, Svensson A, Phelan C, Sandelin K, Thompson NW, Hoog A, Weber G, Farnebo LO, Larsson C (1998) Alterations of the MEN1 gene in sporadic parathyroid tumors. J Clin Endocrinol Metab 83: 2627-2630.
13. DeLellis RA (1991) Tumors of the parathyroid gland. Atlas of Tumor Pathology (Third Series, Fascicle 6). Washington DC: Armed Forces Institute of Pathology 26:65-68.
14. Brandi ML, Marx SJ, Aurbach GD, Fitzpatrick LA (1987) Familial multiple endocrine neoplasia type I: a new look at pathophysiology. Endocr Rev 8: 391-405.
15. Benson L, Ljunghall S, Akerström G, Oberg K (1987) Hyperparathyroidism presenting as the first lesion in multiple endocrine neoplasia type 1. Am J Med 82: 731-737. (Pubitemid 18138562)
16. Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJ, Lombardi G, Mannelli M, Pacini F, Ponder BA, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomassetti P, Tonelli F, Wells SA Jr, Marx SJ (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. 86:5658-5671. (Pubitemid 33152604)
17. Lemos MC, Thakker RV (2008) Multiple endocrine neoplasia type 1 (MEN1): Analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat 29: 22-32
18. Doherty GM, Olson JA, Frisella MM, Lairmore TC, Wells SA Jr, Norton JA (1998) Lethality of multiple endocrine neoplasia 1. World J Surg 22: 581-586.
19. Wilkinson S, Teh BT, Davey KR, McArdle JP, Young M, Shepherd JJ (1993) Cause of death in multiple endocrine neoplasia 1. Arch Surg 128: 683-690. (Pubitemid 23167738)
20. Hai N, Aoki N, Matsuda A, Mori T, Kosugi S (1999) MEN1 mutations in 16 Japanese families with multiple endocrine neoplasia type 1 (MEN1). Eur J Endocrinol 141: 475-480.
21. Hai N, Aoki N, Shimatsu A, Mori T, Kosugi S (2000) Clinical features of multiple endocrine neoplasia type 1 (MEN1) phenocopy without germline MEN1 gene mutations: analysis of 20 Japanese sporadic cases with MEN1. Clin Endocrinol 52:509-518. (Pubitemid 30249820)
22. Uchino S, Noguchi S, Sato M, Yamashita H, Yamashita H, Watanabe S, Murakami T, Toda M, Ohshima A, Futata T, Mizokoshi T, Koike E, Takatsu K, Terao K, Wakiya S, Nagatomo M, Adachi M (2000) Screening of the MEN1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumors. Cancer Res 60: 5553-5557. (Pubitemid 30761272)
23. th ed. New York: Mcgraw-Hill. 943-966.
24. Skarulis MC (1998) Clinical expressions of multiple endocrine neoplasia type 1 at the National Institutes of Health. Ann Intern Med 129: 484-494.
25. Trump D, Farren B, Wooding C, Pang JT, Besser GM, Buchanan KD, Edwards CR, Heath DA, Jackson CE, Jansen S, Lips K, Monson JP, O'Halloran D, Samson J, Shalet SM, Wheeler MH, Zink A, Thakker RV (1996) Clinical studies of multiple endocrine neoplasia type 1 (MEN1) Q J Med 89: 653-669. (Pubitemid 26319017)
26. Hai N, Kosugi S (2000) Gene diagnosis and clinical management of multiple endocrine neoplasia type 1 (MEN1). Biomed Pharmacother. 54:47-51. (Pubitemid 30428887)
27. Tanaka C, Yoshimoto K, Yamada S, Nishioka H, Li S, Moritani M, Yamaoka T, Itakura M (1998) Absence of germ-line mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in familial pituitary adenoma in contrast to MEN1 in Japanese. J Clin Endocrinol Metab 83: 960-965. (Pubitemid 28496476)
28. Sakurai A, Katai M, Yumita W, Minemura K, Hashizume K. (2004) Clinical and genetic features of patients with multiple endocrine tumors who have neither family history nor MEN1 germline mutations. Endocrine 23: 45-49. (Pubitemid 38621639)
29. Burgess JR, Nord BR, David R, Greenaway TM, Parameswaran V, Larsson C, Shepherd JJ, Teh BT. (2000) Phenotype and phenocopy: the relationship between genotype and clinical phenotype in a single large family with multiple endocrine neoplasia type 1 (MEN1). Clin Endocrinol 53: 205-211. (Pubitemid 30643455)
30. Lairmore TC, Piersall LD, DeBenedetti MK, Dilley WG, Mutch MG, Whelan AJ, Zehnbauer B (2007) Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1). Ann Surg. 239:637-645.
31. Lourenco-Jr DM, Toledo RA, Coutinho FL, Margarido LC, Siqueira SA, dos Santos MA, Montenegro FL, Machado MC, Toledo SP. (2007) The impact of clinical and genetic screenings on the management of the multiple endocrine neoplasia type 1. Clinics 62: 465-476.
32. Agarwal SK, Kester MB, Debelenko LV, Heppner C, Emmert-Buck MR, Skarulis MC, Doppman JL, Kim YS, Lubensky IA, Zhuang Z, Green JS, Guru SC, Manickam P, Olufemi SE, Liotta LA, Chandrasekharappa SC, Collins FS, Spiegel AM, Burns AL, Marx SJ (1997) Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum Mol Genet 7: 1169-1175. (Pubitemid 27308404)
33. Teh BT, Kyotla S, Farnebo F, Bergman L, Wong FK, Weber G, Hayward N, Larsson C, Skogseid B, Beckers A, Phelan C, Edwards M, Epstein M, Alford F, Hurley D, Grimmond S, Silins G, Walters M, Stewart C, Cardinal J, Khodaei S, Parente F, Tranebjaerg L, Jorde R, Salmela P, et al. (1998) Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. J Clin Endocrinol Metab 83: 2621-2626. (Pubitemid 28493750)
34. Mutch MG, Dilley WG, Sanjurjo F, DeBenedetti MK, Doherty GM, Wells SA Jr, Goodfellow PJ, Lairmore TC (1999) Germline mutations in the multiple endocrine neoplasia type 1 gene: Evidence for frequent splicing defects. Hum Mutat 13: 175-185. (Pubitemid 29140363)