Multiple endocrine neoplasia type 2

Endocrine Tumor Syndromes and Their Genetics

Volumn 41, Issue , 2013, Pages 16-29

  Lodish, Maya ^a  

^a EUNICE KENNEDY SHRIVER NATIONAL INSTITUTE OF CHILD HEALTH AND HUMAN DEVELOPMENT   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84877991339     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1159/000345667     Document Type: Chapter

References (51)

1. Moline J, Eng C: Multiple endocrine neoplasia type 2: an overview. Genet Med 2011;13:755-764.
2. Gagel RF, Levy ML, Donovan DT, Alford BR, Wheeler T, Tschen JA: Multiple endocrine neopla- sia type 2a associated with cutaneous lichen amy- loidosis. Ann Intern Med 1989;111:802-806.
3. Verdy M, Weber AM, Roy CC, Morin CL, Cadotte M, Brochu P: Hirschsprung's disease in a family with multiple endocrine neoplasia type 2. J Pediatr Gastroenterol Nutr 1982;1:603-607.
4. Howe JR, Norton JA, Wells SA Jr: Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia type 2A: results of long-term follow-up. Surgery 1993;114:1070-1077.
5. Eng C, Clayton D, Schuffenecker I, et al: The rela- tionship between specific RET proto-oncogene mutations and disease phenotype in multiple endo- crine neoplasia type 2. International RET mutation consortium analysis. JAMA 1996;276:1575-1579.
6. Wray CJ, Rich TA, Waguespack SG, Lee JE, Perrier ND, Evans DB: Failure to recognize multiple endo- crine neoplasia 2B: more common than we think? Ann Surg Oncol 2008;15:293-301.
7. Brauckhoff M, Machens A, Hess S, Lorenz K, Gimm O, Brauckhoff K, Sekulla C, Dralle H: Premonitory symptoms preceding metastatic medullary thyroid cancer in MEN 2B: an exploratory analysis. Surgery 2008;144:1044-1050.
8. Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, Gharib H, Moley JF, Pacini F, Ringel MD, Schlum- berger M, Wells SA Jr: Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 2009;19:565-612.
9. Skinner MA, Moley JA, Dilley WG, Owzar K, De- benedetti MK, Wells SA Jr: Prophylactic thyroidec- tomy in multiple endocrine neoplasia type 2A. N Engl J Med 2005;353:1105-1113.
10. Ponder BA, Ponder MA, Coffey R, Pembrey ME, Gagel RF, Telenius-Berg M, Semple P, Easton DF: Risk estimation and screening in families of pa- tients with medullary thyroid carcinoma. Lancet 1988;i:397-401.
11. Sipple JH: Association of pheochromocytoma with carcinoma of thyroid gland. Am J Med 1961;31:163.
12. Cushman P: Familial endocrine tumors - report of two unrelated kindred affected with pheochromo- cytomas, one also with multiple thyroid carcino- mas. Am J Med 1962;32:352-360.
13. Mathew CG, Chin KS, Easton DF, et al: A linked genetic marker for multiple endocrine neoplasia type 2A on chromosome 10. Nature 1987;328:527-528.
14. Donis-Keller H, Dou S, Chi D, Carlson KM, Toshi-ma K, Lairmore TC, Howe JR, Moley JF, Goodfel- low P, Wells SA Jr: Mutations in the RET proto-on- cogene are associated with MEN2A and FMTC. Hum Mol Genet 1993;2:851-856.
15. 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.
16. Williams ED, Pollock DJ: Multiple mucosal neuro- mata with endocrine tumours - a syndrome allied to Von Recklinghausens disease. J Pathol Bacteriol 1966;91:71-80.
17. Hofstra RM, Landsvater RM, Ceccherini I, et al: A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and spo- radic medullary thyroid carcinoma. Nature 1994; 367:375-376.
18. Carlson KM, Dou S, Chi D, Scavarda N, Toshima K, Jackson CE, Wells SA Jr, Goodfellow PJ, Donis- Keller H: Single missense mutation in the tyrosine kinase catalytic domain of the RET proto-oncogene is associated with multiple endocrine neoplasia type 2B. Proc Natl Acad Sci USA 1994;91:1579-1583.
19. 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.
20. Takahashi M, Ritz J, Cooper GM: Activation of a novel human transforming gene, ret, by DNA rear- rangement. Cell 1985;42:581-588.
21. Arighi E, Borrello MG, Sariola H: RET tyrosine ki- nase signaling in development and cancer. Cyto- kine Growth Factor Rev 2005;16:441-467.
22. Lodish MB, Stratakis CA: RET oncogene in MEN2, MEN2B, MTC and other forms of thyroid cancer. Expert Rev Anticancer Ther 2008;8:625-632.
23. Asai N, Iwashita T, Matsuyama M, Takahashi M: Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations. Mol Cell Biol 1995;15:1613-1619.
24. Santoro M, Carlomagno F, Romano A, et al. Activa- tion of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B. Sci- ence 1995;267:381-383.
25. Schuffenecker I, Ginet N, Goldgar D, Eng C, Cham- be B, Boneu A, Houdent C, Pallo D, Schlumberger M, Thivolet C, Lenoir GM: Prevalence and parental origin of de novo RET mutations in multiple endo- crine neoplasia type 2A and familial medullary thyroid carcinoma. Le Groupe d'Etude des Tu- meurs a Calcitonine. Am J Hum Genet 1997;60: 233-237.
26. Carlson KM, Bracamontes J, Jackson CE, Clark R, Lacroix A, Wells SA Jr, Goodfellow PJ: Parent-of- origin effects in multiple endocrine neoplasia type 2B. Am J Hum Genet 1994;55:1076-1082.
27. Kebebew E, Ituarte PH, Siperstein AE, Duh QY, Clark OH: Medullary thyroid carcinoma: clinical characteristics, treatment, prognostic factors, and a comparison of staging systems. Cancer 2000;88: 1139-1148.
28. Modigliani E, Cohen R, Campos JM, Conte-Devolx B, Maes B, Boneu A, Schlumberger M, Bigorgne JC, Dumontier P, Leclerc L, Corcuff B, Guilhem I: Prognostic factors for survival and for biochemical cure in medullary thyroid carcinoma: results in 899 patients. The GETC Study Group. Groupe d'etude des tumeurs a calcitonine. Clin Endocrinol (Oxf) 1998;48:265-273.
29. Quayle FJ, Moley JF: Medullary thyroid carcinoma: including MEN 2A and MEN 2B syndromes. J Surg Oncol 2005;89:122-129.
30. Brierley J, Tsang R, Simpson WJ, Gospodarowicz M, Sutcliffe S, Panzarella T: Medullary thyroid can- cer: analyses of survival and prognostic factors and the role of radiation therapy in local control. Thy- roid 1996;6:305-310.
31. Roman S, Lin R, Sosa JA: Prognosis of medullary thyroid carcinoma: demographic, clinical, and pathologic predictors of survival in 1252 cases. Cancer 2006;107:2134-2142.
32. Cohen MS, Moley JF: Surgical treatment of medul- lary thyroid carcinoma. J Intern Med 2003;253: 616-626.
33. Wells SA Jr, Robinson BG, Gagel RF, Dralle H, Fa- gin JA, Santoro M, Baudin E, Elisei R, Jarzab B, Vas- selli JR, Read J, Langmuir P, Ryan AJ, Schlumberg- er MJ: Vandetanib in patients with locally advanced or metastatic medullary thyroid cancer: a random- ized, double-blind phase III trial. J Clin Oncol 2012; 30:134-141.
34. Lam ET, Ringel MD, Kloos RT, Prior TW, Knopp MV, Liang J, Sammet S, Hall NC, Wakely PE Jr, Vas- ko VV, Saji M, Snyder PJ, Wei L, Arbogast D, Col- lamore M, Wright JJ, Moley JF, Villalona-Calero MA, Shah MH: Phase II clinical trial of sorafenib in metastatic medullary thyroid cancer. J Clin Oncol 2010;28:2323-2330.
35. Carr LL, Mankoff DA, Goulart BH, Eaton KD, Ca- pell PT, Kell EM, Bauman JE, Martins RG: Phase II study of daily sunitinib in FDG-PET-positive, io- dine-refractory differentiated thyroid cancer and metastatic medullary carcinoma of the thyroid with functional imaging correlation. Clin Cancer Res 2010;16:5260-5268.
36. Lairmore TC, Ball DW, Baylin SB, Wells SA Jr: Management of pheochromocytomas in patients with multiple endocrine neoplasia type 2 syn- dromes. Ann Surg 1993;217:595-601.
37. Rodriguez JM, Balsalobre M, Ponce JL, Rios A, Tor- regrosa NM, Tebar J, Parrilla P: Pheochromocyto- ma in MEN 2A syndrome. Study of 54 patients. World J Surg 2008;32:2520-2526.
38. Frank-Raue K, Rybicki LA, Erlic Z, et al. Risk pro- files and penetrance estimations in multiple endo- crine neoplasia type 2A caused by germline RET mutations located in exon 10. Hum Mutat 2011;32: 51-58.
39. Modigliani E, Vasen HM, Raue K, et al. Pheochro- mocytoma in multiple endocrine neoplasia type 2: European study. The Euromen Study Group. J In- tern Med 1995;238:363-367.
40. Alesina PF, Hinrichs J, Meier B, Schmid KW, Neu- mann HP, Walz MK: Minimally invasive cortical- sparing surgery for bilateral pheochromocytomas. Langenbecks Arch Surg 2012;397:233-238.
41. Asari R, Scheuba C, Kaczirek K, Niederle B: Esti- mated risk of pheochromocytoma recurrence after adrenal-sparing surgery in patients with multiple endocrine neoplasia type 2A. Arch Surg 2006;141: 1199-1205; discussion 1205.
42. O'Riordain DS, O'Brien T, Crotty TB, Gharib H, Grant CS, van Heerden JA: Multiple endocrine neo- plasia type 2B: more than an endocrine disorder. Surgery 1995;118:936-942.
43. Leboulleux S, Travagli JP, Caillou B, Laplanche A, Bidart JM, Schlumberger M, Baudin E: Medullary thyroid carcinoma as part of a multiple endocrine neoplasia type 2B syndrome: influence of the stage on the clinical course. Cancer 2002;94:44-50.
44. Machens A, Brauckhoff M, Holzhausen HJ, Thanh PN, Lehnert H, Dralle H: Codon-specific develop- ment of pheochromocytoma in multiple endocrine neoplasia type 2. J Clin Endocrinol Metab 2005;90: 3999-4003.
45. Chen H, Sippel RS, O'Dorisio MS, Vinik AI, Lloyd RV, Pacak K: The North American Neuroendocrine Tumor Society consensus guideline for the diagno- sis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medul- lary thyroid cancer. Pancreas 2010;39:775-783.
46. Ilias I, Pacak K: Diagnosis, localization and treat- ment of pheochromocytoma in MEN 2 syndrome. Endocr Regul 2009;43:89-93.
47. Ilias I, Chen CC, Carrasquillo JA, Whatley M, Ling A, Lazurova I, Adams KT, Perera S, Pacak K: Com- parison of 6-18F-fluorodopamine PET with 123I-me- taiodobenzylguanidine and 111In-pentetreotide scintigraphy in localization of nonmetastatic and metastatic pheochromocytoma. J Nucl Med 2008; 49:1613-1619.
48. Pacak K: Preoperative management of the pheo- chromocytoma patient. J Clin Endocrinol Metab 2007;92:4069-4079.
49. Kraimps JL, Denizot A, Carnaille B, Henry JF, Proye C, Bacourt F, Sarfati E, Dupond JL, Maes B, Travagli JP, Boneu A, Roger P, Houdent C, Barbier J, Modigliani E: Primary hyperparathyroidism in multiple endocrine neoplasia type IIa: retrospec- tive French multicentric study. Groupe d'Etude des Tumeurs a Calcitonine (GETC, French Calcitonin Tumors Study Group), French Association of Endo- crine Surgeons. World J Surg 1996;20:808-812.
50. Raue F, Kraimps JL, Dralle H, Cougard P, Proye C, Frilling A, Limbert E, Llenas LF, Niederle B: Pri- mary hyperparathyroidism in multiple endocrine neoplasia type 2A. J Intern Med 1995;238:369-373.
51. Peacock M, Bilezikian JP, Klassen PS, Guo MD, Turner SA, Shoback D: Cinacalcet hydrochloride maintains long-term normocalcemia in patients with primary hyperparathyroidism. J Clin Endo- crinol Metab 2005;90:135-141.