Best Practice & Research Clinical Rheumatology
Volume 22, Issue 1 , Pages 149-163 , March 2008

Multiple endocrine neoplasms

  • Maria Luisa Brandt, MD, PhD (Professor)

      Affiliations

    • Corresponding Author InformationCorresponding author. Tel.: +39 (0)554296586. Fax +39 (0)554296585.

References 

  1. Gagel RF, Marx SJ. Multiple endocrine neoplasia. In:  Larsen PR,  Kronenberg H,  Melmed S,  Polonsky K editor. Williams Textbook of Endocrinology. 11th edn. Orlando: WB Saunders & Company; 2007 November;(Section X, Chapter 40)
  2. Marx SJ, Simonds WF. Hereditary hormone excess: genes, molecular pathways, and syndromes. Endocrine Reviews. 2005;26:615–661
  3. Skarulis MC. Clinical expressions of MENI at NIH. Annals of Internal Medicine. 1998;129:484–494
  4. Trump D, Farren B, Wooding C, et al. Clinical studies of multiple endocrine neoplasia type 1. QJM: Monthly Journal of the Association of Physicians. 1996;89:653–669
  5. Burgess JR, David R, Parameswaran V, et al. The outcome of subtotal parathyroidectomy for the treatment of hyperparathyroidism in multiple endocrine neoplasia type 1. Archives of Surgery. 1998;133:126–129
  6. Peacock M, Bilezikian JP, Klassen PS, et al. Cinacalcet hydrochloride maintains long-term normocalcemia in patients with primary hyperparathyroidism. The Journal of Clinical Endocrinology and Metabolism. 2005;90:135–141
  7. Marx SJ. Multiple endocrine neoplasia type 1. In:  Scriver CR,  Beaudet AL,  Sly WS,  Valle D editor. The Metabolic and Molecular Bases of Inherited Disease. 8th edn. New York: McGraw-Hill; 2001;
  8. Eberle F, Grun R. Multiple endocrine neoplasia type 1 (MEN I). Ergebnisse der Inneren Medizin und Kinderheilkunde. 1981;46:76–149
  9. Brandi ML, Gagel RF, Angeli A, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. The Journal of Clinical Endocrinology and Metabolism. 2001;86:5658–5671
  10. Sheppard BC, Norton JA, Doppman JL, et al. Management of islet cell tumors in patients with multiple endocrine neoplasia: a prospective study. Surgery. 1989;106:1108–1118
  11. Jensen RT. Management of the Zollinger-Ellison syndrome in patients with multiple endocrine neoplasia type 1. Journal of Internal Medicine. 1997;243:477–488
  12. Thompson NW, Pasieka J, Fukuuchi A. Duodenal gastrinomas, duodenotomy and duodenal exploration in the surgical management of Zollinger-Ellison syndrome. World Journal of Surgery. 1993;17:455–462
  13. Verges B, Boureille F, Goudet P, et al. Pituitary disease in MEN type 1 (MEN1): data from the France-Belgium MEN1 multicenter study. The Journal of Clinical Endocrinology and Metabolism. 2002;87:457–465
  14. Scheithauer BW, Laws ER, Kovacs K, et al. Pituitary adenomas of the multiple endocrine neoplasia type 1 syndrome. Seminars in Diagnostic Pathology. 1987;4:205–211
  15. Beckers A, Betea D, Socin HV, Stevenaert A. The treatment of sporadic versus MEN1-related pituitary adenomas. Journal of Internal Medicine. 2003;253:599–605
  16. Duh QY, Hybarger CP, Geist R, et al. Carcinoids associated with multiple endocrine neoplasia syndromes. American Journal of Surgery. 1987;154:142–148
  17. Gibril F, Chen YJ, Schrump DS, et al. Prospective study of thymic carcinoids in patients with multiple endocrine neoplasia type 1. The Journal of Clinical Endocrinology and Metabolism. 2003;88:1066–1081
  18. Teh BT, McArdle J, Chan SP, et al. Clinicopathologic studies of thymic carcinoids in multiple endocrine neoplasia type 1. Medicine. 1997;76:21–29
  19. Sachithanandan N, Harle RA, Burgess JR. Bronchopulmonary carcinoid in multiple endocrine neoplasia type 1. Cancer. 2005;103:509–515
  20. Tomassetti P, Migliori M, Caletti GC, et al. Treatment of type II gastric carcinoid tumors with somatostatin analogues. The New England Journal of Medicine. 2000;343:551–554
  21. Darling TN, Skarulis MC, Steinberg SM, et al. Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. Archives of Dermatology. 1997;133:853–857
  22. Sakurai A, Matsumoto K, Ikeo Y, et al. Frequency of facial angiofibromas in Japanese patients with multiple endocrine neoplasia type 1. Endocrine Journal. 2000;47:569–573
  23. Chandrasekharappa SC, Guru SC, Manickam P, et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science. 1997;276:404–407
  24. Knudson AG. Antioncogenes and human cancer. Proceedings of the National Academy of Sciences of the United States of America. 1993;90:10914–10921
  25. Thakker RV. Multiple endocrine neoplasia. Hormone Research. 2001;56:67–72
  26. Teh BT, Kytola S, Farnebo F, et al. Mutation analysis of the MEN1 gene in multiple endocrine neoplasia type 1, familial acromegaly and familial isolated hyperparathyroidism. The Journal of Clinical Endocrinology and Metabolism. 1998;83:2621–2626
  27. Agarwal SK, Kester MB, Debelenko LV, et al. Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Human Molecular Genetics. 1997;6:1169–1175
  28. Kishi M, Tsukada T, Shimizu S, et al. A large germline deletion of the MEN1 gene in a family with multiple endocrine neoplasia type 1. Japanese Journal of Cancer Research. 1998;89:1–5
  29. Marx SJ, Agarwal SK, Kester MB, et al. Germline and somatic mutation of the gene for multiple endocrine neoplasia type 1 (MEN1). Journal of Internal Medicine. 1998;243:447–453
  30. Guru SC, Manickam P, Crabtree JS, et al. Identification and characterization of the multiple endocrine neoplasia type 1 (MEN1) gene. Journal of Internal Medicine. 1998;243:433–439
  31. Agarwal SK, Kennedy PA, Scacheri PC, et al. Menin molecular interactions: insights into normal functions and tumorigenesis. Hormone and Metabolic Research. 2005;37:369–374
  32. Yaguchi H, Ohkura N, Tsukada T, Yamaguchi K. Menin, the multiple endocrine neoplasia type 1 gene product, exhibits GTP-hydrolyzing activity in the presence of the tumor metastasis suppressor nm23. The Journal of Biological Chemistry. 2002;277:38197–38204
  33. Schnepp RW, Hou Z, Wang H, et al. Functional interaction between tumor suppressor menin and activator of S-phase kinase. Cancer Research. 2004;64:6791–6796
  34. Huang SC, Zhuang Z, Weil RJ, et al. Nuclear/cytoplasmic localization of the multiple endocrine neoplasia type 1 gene product, menin. Laboratory Investigation. 1999;79:301–310
  35. Suphapeetiporn K, Greally JM, Walpita D, et al. MEN1 tumor-suppressor protein localizes to telomers during meiosis. Genes Chromosomes Cancer. 2002;35:81–85
  36. Lopez-Egido J, Cunningham J, Berg M, et al. Menin's interaction with glialfibrillary acidic protein and vimentin suggests a role for the intermediate filament network in regulating menin activity. Experimental Cell Research. 2002;278:175–183
  37. Milne TA, Hughes CM, Lloyd R, et al. Menin and MLL cooperatively regulate expression of cyclin-dependent kinase inhibitors. Proceedings of the National Academy of Sciences of the United States of America. 2005;102:749–754
  38. Kaji H, Canaff L, Lebrun JJ, et al. Inactivation of menin, a Smad3 interacting protein, blocks transforming growth factor type beta signaling. Proceedings of the National Academy of Sciences of the United States of America. 2001;98:3837–3842
  39. La P, Schnepp RWD, Petersen C, et al. Tumor suppressor menin regulates expression of insulin-like growth factor binding protein 2. Endocrinology. 2004;145:3443–3450
  40. La P, Desmond A, Hou Z, et al. Tumor suppressor menin: the essential role of nuclear localization signal domains in coordinating gene expression. Oncogene. 2006;25:3537–3546
  41. Jin S, Mao H, Schnepp RW, et al. Menin associates with FANCD2, a protein involved in repair of DNA damage. Cancer Research. 2003;63:4204–4210
  42. Sukhodolets KE, Hickman AB, Agarwal SK, et al. The 32-kilodalton subunit of replication protein A interacts with menin, the product of the MEN1 tumor suppressor gene. Molecular and Cellular Biology. 2003;23:493–509
  43. Heppner C, Bilimoria KY, Agarwal SK, et al. The tumor suppressor protein menin interacts with NF-κB proteins and inhibits NF-κB-mediated transactivation. Oncogene. 2001;20:4917–4925
  44. Scacheri P, Davis S, Odom DT, et al. Genome-wide analysis of menin binding provides insights into MEN1 tumorigenesis. PLOS Genetics. 2006;2:1–14
  45. Agarwal SK, Impey S, McWeeney S, et al. Distribution of menin-occupied regions in chromatin specifies a broad role of menin in transcriptional regulation. Neoplasia. 2006;9:101–107
  46. Bhuiyan MMR, Sato M, Murao K, et al. Expression of menin in parathyroid tumors. The Journal of Clinical Endocrinology and Metabolism. 2000;85:2615–2619
  47. Sowa H, Kaji H, Kitazawa R, et al. Menin inactivation leads to loss of transforming growth factor beta inhibition of parathyroid cell proliferation and parathyroid hormone secretion. Cancer Research. 2004;64:2222–2228
  48. Sayo Y, Murao K, Imachi H, et al. The multiple endocrine neoplasia type 1 gene product, menin, inhibits insulin production in rat insulinoma cells. Endocrinology. 2002;143:2347–2440
  49. Karnik SK, Hughes CM, Gu X, et al. Menin regulates pancreatic islet growth by promoting histone methylation and expression of genes encoding p27Kip1 and p18INK4c. Proceedings of the National Academy of Sciences of the United States of America. 2005;102:14659–14664
  50. Hendy GN, Kaji H, Sowa H, et al. Menin and TGF-β superfamily member signaling via the Smad pathway in pituitary, parathyroid and osteoblast. Hormone and Metabolic Research. 2005;37:375–379
  51. Lacerte A, Lee EH, Reynaud R, et al. Activin inhibits pituitary prolactin expression and cell growth though Smads, Pit-1 and menin. Molecular Endocrinology. 2004;18:1558–1569
  52. Klein RD, Salih S, Bessoni J, Bale AE. Clinical testing for multiple endocrine neoplasia type 1 in a DNA diagnostic laboratory. Genetics in Medicine. 2005;7:131–138
  53. Larsson C, Calendar A, Grimmond S, et al. Molecular tools for presymptomatic testing in multiple endocrine neoplasia type 1. Journal of Internal Medicine. 1995;238:239–244
  54. Gimm O. Multiple endocrine neoplasia type 2: clinical aspects. Frontiers of Hormone Research. 2001;28:103–130
  55. Papotti M, Botto Micca F, Favero A, et al. Poorly differentiated thyroid carcinomas with primordial cell component. A group of aggressive lesions sharing insular, trabecular, and solid patterns. The American Journal of Surgical Pathology. 1993;17:291–301
  56. Carling T. Multiple endocrine neoplasia syndrome: genetic basis for clinical management. Current Opinion in Oncology. 2005;17:7–12
  57. Gagel RF, Melvin KE, Tashjian AH, et al. Natural history of the familial medullary thyroid carcinoma-pheochromocytoma syndrome and the identification of preneoplastic stages by screening studies: a five-year report. Transactions of the Association of American Physicians. 1975;88:177–191
  58. Dralle H, Gimm O, Simon D, et al. Prophylactic thyroidectomy in 75 children and adolescents with hereditary medullary thyroid carcinoma: German and Austrian experience. World Journal of Surgery. 1998;22:744–750
  59. Donis-Keller H, Dou S, Chi D, et al. Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC. Human Molecular Genetics. 1993;2:851–856
  60. Mulligan LM, Kwok JB, Healey CS, et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature. 1993;363:458–460
  61. Da Silva AM, Maciel RM, Da Silva MR, et al. A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma. The Journal of Clinical Endocrinology and Metabolism. 2003;88:5438–5443
  62. Punales MK, Graf H, Gross JL, Maia AL. RET codon 634 mutations in multiple endocrine neoplasia type 2: variable clinical features and clinical outcome. The Journal of Clinical Endocrinology and Metabolism. 2003;88:2644–2649
  63. Peczkowska M, Januszewicz A. Multiple endocrine neoplasia type 2. Fam Cancer. 2005;4:25–36
  64. Manie S, Santoro M, Fusco A, Billaud M. The RET receptor: function in development and dysfunction in congenital malformation. Trends in Genetics. 2001;17:580–589
  65. Santoro M, Melillo RM, Carlomagno F, et al. Minireview: RET: normal and abnormal functions. Endocrinology. 2004;145:5448–5451
  66. Jain S, Watson MA, DeBenedetti MK, et al. Expression profiles provide insights into early malignant potential and skeletal abnormalities in multiple endocrine neoplasia type 2B syndrome tumors. Cancer Research. 2004;64:3907–3913
  67. Jimenez C, Gagel RF. Genetic testing in endocrinology: lessons learned from experience with multiple endocrine neoplasia type 2 (MEN2). Growth Hormone & IGF Research. 2004;14:S150–S157
  68. Eng C, Mulligan LM. Mutations of the RET proto-oncogene in the multiple endocrine neoplasia type 2 syndromes, related sporadic tumours, and hirschsprung disease. Human Mutation. 1997;9:97–109

PII: S1521-6942(07)00129-5

doi: 10.1016/j.berh.2007.11.010

Best Practice & Research Clinical Rheumatology
Volume 22, Issue 1 , Pages 149-163 , March 2008