Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics

Journal of Endocrinological Investigation

Volumn 27, Issue 11, 2004, Pages 1015-1021

  Scarpelli, D ^a   D'Aloiso, L ^b   Arturi, F ^a   Scillitani, A ^b   Presta, I ^a   Bisceglia, M ^b   Cristofaro, C ^a   Russo, D ^a   Filetti, S ^c  

^a UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^b CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

MEN 1 gene; Menin; Multiple endocrine neoplasia type 1 (MEN 1); Mutation analysis; Non familial primary hyperparathyroidism

Indexed keywords

DNA;

ARTICLE; FEMALE; GENETIC POLYMORPHISM; GENETICS; GENOTYPE; HETEROZYGOSITY LOSS; HUMAN; HYPERPARATHYROIDISM; MALE; MULTIPLE ENDOCRINE NEOPLASIA; NUCLEOTIDE SEQUENCE; PARATHYROID TUMOR; PATHOLOGY; PHENOTYPE; POLYMERASE CHAIN REACTION;

DNA; DNA MUTATIONAL ANALYSIS; FEMALE; GENOTYPE; HUMANS; HYPERPARATHYROIDISM; LOSS OF HETEROZYGOSITY; MALE; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; PARATHYROID NEOPLASMS; PHENOTYPE; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 15744363162     PISSN: 03914097     EISSN: 17208386     Source Type: Journal    
DOI: 10.1007/BF03345303     Document Type: Article

References (38)

1. Bilezikian JP, Silverberg S, Gartenberg F, et al. Clinical presentation of primary hyperparathyroidism. In: Bilezikian JP, Marcus R, Levine MA eds. The parathyroids: basic and clinical concepts. New York: Raven Press .1994, 457.
2. Heath H 3rd, Hodgson SF, Kennedy MA. Primary hyperparathyroidism: incidence, morbidity, and potential economic impact in a community. N Engl J Med 1980, 302:189-93.
3. Marx SJ. Hyperparathyroid and hypoparathyroid disorders. N Engl J Med 2000, 343: 1863-75.
4. Chandrasekharappa SC, Guru SC, Manickam P, et al. Positional cloning of the gene for multiple endocrine neoplasia type 1. Science 1997, 276: 404-7.
5. Guru SC, Goldsmith PK, Burns AI, et al. Menin, The product of the MEN1 gene, is a nuclear protein. Proc Nat Acad Sci USA 1998, 95: 1630-4.
6. The European Consortium on MEN1: Belgium: Lemmens I, Van de Ven WJ, Kas K, et al. Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. Hum Mol Genet 1997, 6: 1177-83.
7. Agarwal SK, Kester MB, Debelenko LV, et al. Germline Mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum Mol Genet 1997, 6: 1169-75.
8. Heppner C, Kester MB, Agarwal SK, et al. Somatic mutation of the MEN1 gene in parathyroid tumours. Nat Gen 1997, 16: 375-8.
9. Carling T, Correa P, Hessman O, et al. Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism. J Clin Endocrinol Metab 1998, 83: 2960-3.
10. Farnebo F, Teh BT, Kytola S, et al. Alterations of the MEN1 gene in sporadic parathyroid tumors. J Clin Endocrinol Metab 1998, 83: 2627-30.
11. Sato K, Yamazaki K, Zhu H, et al. Somatic mutations of the multiple endocrine neoplasia type 1 (MEN1) gene in patients with sporadic, nonfamilial primary hyperparathyroidism. Surgery 2000, 127: 337-41.
12. Cetani F, Pardi E, Vignali E, et al. MEN1 gene alterations do not correlate with the phenotype of sporadic primary hyperparathyroidism. J Endocrinol Invest 2002, 25: 508-12.
13. Pannett AA, Kennedy AM, Turner JJ, et al. Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol (Oxf) 2003, 58: 639-46.
14. Thakker RV, Bouloux P, Wooding C, et al. Association of parathyroid tumors in multiple endocrine neoplasia type 1 with loss of alleles on chromosome 11. N Engl J Med 1989, 321: 218-24.
15. Bystrom C, Larsson C, Blomberg C, et al. Localization of the MEN1 gene to a small region within chromosome 11q13 by deletion mapping in tumors. Proc Nat Acad Sci USA 1990, 87: 1968-72.
16. Friedman E, De Marco L, Gejman PV, et al. Allelic loss from chromosome 11 in parathyroid tumors. Cancer Res 1992, 52: 6804-9.
17. Bassett JH, Forbes SA, Pannett AA, et al. Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet 1998, 62: 232-44.
18. Dwight T, Nelson AE, Theodosopoulos G, et al. Independent genetic events associated with the development of multiple parathyroid tumors in patients with primary hyperparathyroidism. Am J Pathol 2002, 161: 1299-306.
19. Arnold A, Kim HG, Gaz RD, et al. Molecular cloning and chromosomal mapping of DNA rearranged with the parathyroid hormone gene in a parathyroid adenoma. J Clin Invest 1989, 83: 2034-40.
20. Hsi ED, Zukerberg LR, Yang WI, Arnold A. Cyclin D1/PRAD1 expression in parathyroid adenomas: an immunohistochemical study. J Clin Endocrinol Metab 1996, 81: 1736-9.
21. Vasef MA, Brynes RK, Sturm M, Bromley C, Robinson RA. Expression of cyclin D1 in parathyroid carcinomas, adenomas, and hyperplasias: a paraffin immunohistochemical study. Mod Pathol 1999 12: 412-6.
22. Cryns VL, Thor A, Xu HJ, et al. Loss of the retinoblastoma tumor-suppressor gene in parathyroid carcinoma. N Engl J Med 1994, 330: 757-61.
23. Dotzenrath C, The BT, Farnebo F, et al. Allelic loss of the retinoblastoma tumor suppressor gene: a marker for aggressive parathyroid tumors? J Clin Endocrinol Metab 1996, 81: 3194-6.
24. Agarwal SK, Guru SC, Heppner C, et al. Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell 1999, 96: 143-52.
25. Kaji H, Canaff L, Lebrun JJ, Goltzman D, Hendy GN. Inactivation of menin, a Smad3-interacting protein, blocks transforming growth factor type beta signaling. Proc Nat Acad Sci USA 2001, 98: 3837-42.
26. Ohkura N, Kishi M, Tsukada T, Yamaguchi K. Menin, a gene product responsible for multiple endocrine neoplasia type 1, interacts with the putative tumor metastasis suppressor nm23. Biochem Biophys Res Commun 2001, 282: 1206-10.
27. Heppner C, Bilimoria KY, Agarwal SK, et al. The tumor suppressor protein menin interacts with NF-kappaB proteins and inhibits NF-kappaB-mediated transactivation. Oncogene 2001, 20: 4917-25.
28. Schussheim DH, Skarulis MC, Agarwal SK, et al. Multiple endocrine neoplasia type 1: new clinical and basic findings. Trend Endocrinol Metab 2001, 12: 173-8.
29. Shimizu S, Tsukada T, Futami H, et al. Germline mutations of the MEN1 gene in Japanese kindred with multiple endocrine neoplasia type 1. Jpn J Cancer Res 1997, 88: 1029-32.
30. Marx S, Spiegel, AM, Skarulis MC, Doppman JL, Collins FS, Lotta LA. Multiple endocrine neoplasia type 1:clinical and genetic topics. Ann Intern Med 1998, 129: 484-94.
31. Knudson AG JR. Mutation and cancer: statistical study of retinoblastoma. Proc Nat Acad Sci USA 1971, 68: 820-3.
32. Crabtree JS, Scacheri PC, Ward JM, et al. A mouse model of multiple endocrine neoplasia, type 1, develops multiple endocrine tumors. Proc Nat Acad Sci USA 2001, 98: 1118-23.
33. Shan L, Nakamura Y, Nakamura M, et al. Somatic mutations of multiple endocrine neoplasia type 1 gene in the sporadic endocrine tumors. Lab Invest 1998, 78: 471-5.
34. Howell, VM, Haven CJ, Kahnoski K, et al. HRPT2 mutations are associated with malignancy in sporadic parathyroid tumours. J Med Genet 2003, 40: 657-63.
35. Shattuck TM, Valimaki, Obara T, et al. Somatic and germline mutations of the HRPT2 gene in sporadic parathyroid carcinoma. N Engl J Med 2003, 349: 1722-9.
36. Edstrom E, Mahlamaki E, Nord B, et al. Comparative genomic hybridization reveals frequent losses of chromosomes 1p and 3q in pheochromocytomas and abdominal paragangliomas, suggesting a common genetic etiology. Am J Pathol 2000, 156: 651-9.
37. Correa P, Lundgren E, Rastad J, Akerstrom G, Westin G, Carling T. Multiple endocrine neoplasia type 1 polymorphism D418D is associated with sporadic primary hyperparathyroidism. Surgery 2002, 132: 450-5.
38. Teh, BT, Kytölä S, Farnebo F, et al. Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. J Clin Endocrinol Metab 1998, 83: 2621-6.