Multiple endocrine neoplasia syndrome: Genetic basis for clinical management

Current Opinion in Oncology

Volumn 17, Issue 1, 2005, Pages 7-12

  Carling, Tobias ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

Genetics; Hyperparathyroidism; Medullary thyroid cancer; Multiple endocrine neoplasia; Pheochromocytoma; Tumor suppressor gene

Indexed keywords

HISTAMINE H2 RECEPTOR ANTAGONIST; METHIONINE; PROTEIN RET; PROTON PUMP INHIBITOR; SOMATOSTATIN DERIVATIVE;

ADRENALECTOMY; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AUTOTRANSPLANTATION; CANCER GENETICS; GASTRECTOMY; GENE MUTATION; GENETIC SCREENING; GENOTYPE PHENOTYPE CORRELATION; HUMAN; HYPERGASTRINEMIA; HYPERPARATHYROIDISM; HYPOPHYSIS TUMOR; LYMPH NODE DISSECTION; MULTIPLE ENDOCRINE NEOPLASIA; ONCOGENE RET; PANCREAS ISLET CELL TUMOR; PARATHYROID TUMOR; PARATHYROIDECTOMY; PHEOCHROMOCYTOMA; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; PROTEIN FUNCTION; REVIEW; SEQUENCE HOMOLOGY; SIPPLE SYNDROME; THYMECTOMY; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY; TRANSCRIPTION REGULATION;

DIAGNOSIS, DIFFERENTIAL; GENETIC SCREENING; GENOTYPE; HUMANS; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2B; PHENOTYPE; PROGNOSIS; PROTO-ONCOGENE PROTEINS; QUALITY OF LIFE; TRANSCRIPTION, GENETIC;

EID: 13144258730     PISSN: 10408746     EISSN: None     Source Type: Journal    
DOI: 10.1097/01.cco.0000148567.29850.31     Document Type: Review

References (57)

1. Brandi ML, Gagel RF, Angeli A, et al.: Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 2001, 86:5658-5671.
2. Carling T: Molecular pathology of parathyroid tumors. Trends Endocrinol Metab 2001, 12:53-58.
3. Carrasco CA, Gonzalez AA, Carvajal CA, et al.: Novel intronic mutation of MEN1 gene causing familial isolated primary hyperparathyroidism. J Clin Endocrinol Metab 2004, 89:4124-4129.
4. Hao W, Skarulis MC, Simonds WF, et al.: Multiple endocrine neoplasia type 1 variant with frequent prolactinoma and rare gastrinoma. J Clin Endocrinol Metab 2004, 89:3776-3784.
5. Agarwal SK, Lee Burns A, Sukhodolets KE, et al.: Molecular pathology of the MEN1 gene. Ann N Y Acad Sci 2004, 1014:189-198. This article reviews recent studies of the MEN1 gene and its product, menin.
6. Asgharian B, Chen YJ, Patronas NJ, et al.: Meningiomas maybe a component tumor of multiple endocrine neoplasia type 1. Clin Cancer Res 2004, 10:869-880.
7. Doherty GM, Olson JA, Frisella MM, et al.: Lethality of multiple endocrine neoplasia type I. World J Surg 1998, 22:581-586; discussion, 586-587.
8. Skogseid B: Multiple endocrine neoplasia type 1. Br J Surg 2003, 90:383-385. A concise report on current issues of the diagnosis and clinical management of MEN1.
9. Ebeling T, Vierimaa O, Kytola S, et al.: Effect of multiple endocrine neoplasia type 1 (MEN1) gene mutations on premature mortality in familial MEN1 syndrome with founder mutations. J Clin Endocrinol Metab 2004, 89:3392-3396.
10. Eng C, Clayton D, Schuffenecker I, et al.: The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2: international RET mutation consortium analysis. JAMA 1996, 276:1575-1579.
11. Moley JF: Medullary thyroid carcinoma. Curr Treat Options Oncol 2003, 4:339-347.
12. Ponder BA, Ponder MA, Coffey R, et al.: Risk estimation and screening in families of patients with medullary thyroid carcinoma. Lancet 1988, 1:397-401.
13. Carney JA, Go VL, Sizemore GW, et al.: Alimentary-tract ganglioneuromatosis: a major component of the syndrome of multiple endocrine neoplasia, type 2b. N Engl J Med 1976, 295:1287-1291.
14. Eng C: RET proto-oncogene in the development of human cancer. J Clin Oncol 1999, 17:380-393.
15. Jimenez C, Habra MA, Huang SC, et al.: Pheochromocytoma and medullary thyroid carcinoma: a new genotype-phenotype correlation of the RET protooncogene 891 germline mutation. J Clin Endocrinol Metab 2004, 89:4142-4145.
16. Lindskog S, Nilsson O, Jansson S, et al.: Phenotypic expression of a family with multiple endocrine neoplasia type 2A due to a RET mutation at codon 618. Br J Surg 2004, 91:713-718.
17. Chandrasekharappa SC, Guru SC, Manickam P, et al.: Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science 1997, 276:404-407.
18. European Consortium on MEN1: Identification of the multiple endocrine neoplasia type 1 (MEN1) gene. Hum Mol Genet 1997, 6:1177-1183.
19. Hessman O, Lindberg D, Skogseid B, et al.: Mutation of the multiple endocrine neoplasia type 1 gene in nonfamilial, malignant tumors of the endocrine pancreas. Cancer Res 1998, 58:377-379.
20. Heppner C, Kester MB, Agarwal SK, et al.: Somatic mutations of the MEN1 gene in parathyroid tumours. Nat Genet 1997, 16:375-378.
21. Farnebo F, Teh B-T, Kytölä S, et al.: Alterations of the MEN1 gene in sporadic parathyroid tumors. J Clin Endocrinol Metab 1998, 83:2627-2630.
22. 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, 83:2960-2963.
23. Agarwal S, Guru S, Heppner C, et al.: Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell 1999, 96:143-152.
24. Busygina V, Suphapeetiporn K, Marek LR, et al.: Hypermutability in a Drosophila model for multiple endocrine neoplasia type 1. Hum Mol Genet 2004, 13:2399-2408.
25. Jin S, Mao H, Schnepp RW, et al.: Menin associates with FANCD2, a protein involved in repair of DNA damage. Cancer Res 2003, 63:4204-4210.
26. Kim H, Lee JE, Cho EJ, et al.: Menin, a tumor suppressor, represses JunD-mediated transcriptional activity by association with an mSin3A-histone deacetylase complex. Cancer Res 2003, 63:6135-6139.
27. Schnepp RW, Hou Z, Wang H, et al.: Functional interaction between tumor suppressor menin and activator of S-phase kinase. Cancer Res 2004, 64:6791-6796.
28. Schnepp RW, Mao H, Sykes SM, et al.: Menin induces apoptosis in murine embryonic fibroblasts. J Biol Chem 2004, 279:10685-10691.
29. Sowa H, Kaji H, Hendy GN, et al.: Menin is required for bone morphogenetic protein 2- and transforming growth factor beta-regulated osteoblastic differentiation through interaction with Smads and Runx2. J Biol Chem 2004, 279:40267-40275.
30. Stalberg P, Grimfjard P, Santesson M, et al.: 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 2004, 89:2326-2337.
31. La P, Silva AC, Hou Z, et al.: Direct binding of DNA by tumor suppressor menin. J Biol Chem 2004, 279:49045-49054.
32. Hughes CM, Rozenblatt-Rosen O, Milne TA, et al.: Menin associates with a trithorax family histone methyltransferase complex and with the hoxc8 locus. Mol Cell 2004, 13:587-597. An impressive article showing that menin function is related to chromatin modification and transcription by interaction with a protein complex with methyltransferase activity.
33. 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 Res 2004, 64:2222-2228.
34. Yaguchi H, Ohkura N, Takahashi M, et al.: Menin missense mutants associated with multiple endocrine neoplasia type 1 are rapidly degraded via the ubiquitin-proteasome pathway. Mol Cell Biol 2004, 24:6569-6580.
35. Crabtree JS, Scacheri PC, Ward JM, et al.: Of mice and MEN1: insulinomas in a conditional mouse knockout. Mol Cell Biol 2003, 23:6075-6085.
36. Biondi CA, Gartside MG, Waring P, et al.: Conditional inactivation of the MEN1 gene leads to pancreatic and pituitary tumorigenesis but does not affect normal development of these tissues. Mol Cell Biol 2004, 24:3125-3131.
37. Bertolino P, Tong WM, Galendo D, et al.: Heterozygous Men1 mutant mice develop a range of endocrine tumors mimicking multiple endocrine neoplasia type 1. Mol Endocrinol 2003, 17:1880-1892.
38. Scacheri PC, Kennedy AL, Chin K, et al.: Pancreatic insulinomas in multiple endocrine neoplasia, type I knockout mice can develop in the absence of chromosome instability or microsatellite instability. Cancer Res 2004, 64:7039-7044.
39. Santoro M, Melillo RM, Carlomagno F, et al.: RET: normal and abnormal functions. Endocrinology 2004, 10:1210-1222.
40. Machens A, Niccoli-Sire P, Hoegel J, et al.: Early malignant progression of hereditary medullary thyroid cancer. N Engl J Med 2003, 349:1517-1525. A seminal article from the EUROMEN study group, providing initial guidelines for the timing of prophylactic thyroidectomy in asymptomatic carriers of RET gene mutations.
41. 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 Res 2004, 64:3907-3913.
42. Shapiro SE, Cote GC, Lee JE, et al.: The role of genetics in the surgical management of familial endocrinopathy syndromes. J Am Coll Surg 2003, 197:818-831.
43. Lairmore TC, Piersall LD, DeBenedetti MK, et al.: Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1). Ann Surg 2004, 239:637-645; discussion, 645-637.
44. McWhinney SR, Boru G, Binkley PK, et al.: Intronic single nucleotide polymorphisms in the RET protooncogene are associated with a subset of apparently sporadic pheochromocytoma and may modulate age of onset. J Clin Endocrinol Metab 2003, 88:4911-4916.
45. Carling T, Udelsman R: Parathyroid surgery in familial hyperparathyroid disorders. J Intern Med 2004, 257:1-11.
46. Gibril F, Chen YJ, Schrump DS, et al.: Prospective study of thymic carcinoids in patients with multiple endocrine neoplasia type 1. J Clin Endocrinol Metab 2003, 88:1066-1081.
47. Elaraj DM, Skarulis MC, Libutti SK, et al.: Results of initial operation for hyperparathyroidism in patients with multiple endocrine neoplasia type 1. Surgery 2003, 134:858-864; discussion, 864-855. The largest published study of outcome after operation for hyperparathyroidism in MEN1, suggesting that subtotal parathyroidectomy is the initial operation of choice.
48. Carling T, Udelsman R: Advancements in the surgical treatment of primary hyperparathyroidism. Problems Gen Surg 2003, 20:31-37.
49. Norton JA, Fraker DL, Alexander HR, et al.: Surgery to cure the Zollinger-Ellison syndrome. N Engl J Med 1999, 341:635-644.
50. Norton JA, Jensen RT: Current surgical management of Zollinger-Ellison syndrome (ZES) in patients without multiple endocrine neoplasia-type 1 (MEN1). Surg Oncol 2003, 12:145-151.
51. Norton JA, Warren RS, Kelly MG, et al.: Aggressive surgery for metastatic liver neuroendocrine tumors. Surgery 2003, 134:1057-1063; discussion, 1063-1055.
52. Norton JA, Kivlen M, Li M, et al.: Morbidity and mortality of aggressive resection in patients with advanced neuroendocrine tumors. Arch Surg 2003, 138:859-866.
53. Corbetta S, Pizzocaro A, Peracchi M, et al.: Multiple endocrine neoplasia type 1 in patients with recognized pituitary tumours of different types. Clin Endocrinol (Oxf) 1997, 47:507-512.
54. Melmed S: Mechanisms for pituitary tumorigenesis: the plastic pituitary. J Clin Invest 2003, 112:1603-1618.
55. Yip L, Cote GJ, Shapiro SE, et al.: Multiple endocrine neoplasia type 2: evaluation of the genotype-phenotype relationship. Arch Surg 2003, 138:409-416; discussion, 416.
56. Yip L, Lee JE, Shapiro SE, et al.: Surgical management of hereditary pheochromocytoma. J Am Coll Surg 2004, 198:525-534; discussion, 534-525.
57. Cuccuru G, Lanzi C, Cassinelli G, et al.: Cellular effects and antitumor activity of RET inhibitor RPI-1 on MEN2A-associated medullary thyroid carcinoma. J Natl Cancer Inst 2004, 96:1006-1014.