Multiple endocrine neoplasia type 2: Clinical manifestations and management

Cancer Treatment and Research

Volumn 153, Issue , 2010, Pages 321-337

  Moley, Jeffrey F ^a   Traugott, Amber L ^b  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN RET;

CLINICAL FEATURE; GENE MUTATION; HUMAN; NEUROFIBROMATOSIS; PHEOCHROMOCYTOMA; POSTOPERATIVE CARE; PRIMARY HYPERPARATHYROIDISM; PRIORITY JOURNAL; REVIEW; SIPPLE SYNDROME; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY;

ADRENAL GLAND NEOPLASMS; CARCINOMA, MEDULLARY; HUMANS; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; PHEOCHROMOCYTOMA; PROTO-ONCOGENE PROTEINS C-RET; THYROID NEOPLASMS;

EID: 77953652632     PISSN: 09273042     EISSN: None     Source Type: Book Series    
DOI: 10.1007/978-1-4419-0857-5_18     Document Type: Review

References (76)

1. Steiner AL, Goodman AD, Powers SR (1968) Study of a kindred with pheochromocytoma, medullary thyroid carcinoma, hyperparathyroidism and Cushing's disease: Multiple endocrine neoplasia, type 2. Medicine (Baltimore) 47:371-409
2. Dralle H, Gimm O, Simon D et al. (1998) Prophylactic thyroidectomy in 75 children and adolescents with hereditary medullary thyroid carcinoma: German and Austrian experience. World J Surg 22:744-750 discussion 50-51
3. Hinze R, Holzhausen HJ, Gimm O et al. (1998) Primary hereditary medullary thyroid carcinoma - C-cell morphology and correlation with preoperative calcitonin levels. Virchows Arch 433:203-208
4. Wolfe HJ, Melvin KE, Cervi-Skinner SJ et al. (1973) C-cell hyperplasia preceding medullary thyroid carcinoma. N Engl J Med 289:437-441
5. Fialkowski EA, Moley JF (2006) Current approaches to medullary thyroid carcinoma, sporadic and familial. J Surg Oncol 94(8):737-747
6. Howe JR, Norton JA, Wells SA Jr (1993) Prevalence of pheochromocytoma and hyperparathyroidism in multiple endocrine neoplasia type 2A: Results of long-term follow-up. Surgery 114:1070-1077
7. Frank-Raue K, Kratt T, Hoppner W et al. (1996) Diagnosis and management of pheochromocytomas in patients with multiple endocrine neoplasia type 2-relevance of specific mutations in the RET proto-oncogene. Eur J Endocrinol 135:222-225 (Pubitemid 26284196)
8. Quayle FJ, Fialkowski EA, Benveniste R et al. (2007) Pheochromocytoma penetrance varies by RET mutation in MEN 2A. Surgery 142:800-805 discussion 5 e1
9. Kraimps JL, Denizot A, Carnaille B et al. (1996) Primary hyperparathyroidism in multiple endocrine neoplasia type IIa: Retrospective French multicentric study. Groupe d'EtuDe des Tumeurs a Calcitonine (GETC, French Calcitonin Tumors Study Group), French Association of Endocrine Surgeons. World J Surg 20:808-812 discussion 12-13
10. Bugalho MJ, Limbert E, Sobrinho LG et al. (1992) A kindred with multiple endocrine neoplasia type 2A associated with pruritic skin lesions. Cancer 70:2664-2667
11. Ceccherini I, Romei C, Barone V et al. (1994) Identification of the Cys634->Tyr mutation of the RET proto-oncogene in a pedigree with multiple endocrine neoplasia type 2A and localized cutaneous lichen amyloidosis. J Endocrinol Invest 17:201-204
12. Gagel RF, Levy ML, Donovan DT et al. (1989) Multiple endocrine neoplasia type 2a associated with cutaneous lichen amyloidosis. Ann Intern Med 111:802-806
13. Lemos MC, Carrilho F, Rodrigues FJ et al. (2002) Early onset of medullary thyroid carcinoma in a kindred with multiple endocrine neoplasia type iia associated with cutaneous lichen amyloidosis. Endocr Pract 8:19-22
14. Nunziata V, di Giovanni G, Lettera AM et al. (1989) Cutaneous lichen amyloidosis associated with multiple endocrine neoplasia type 2A. Henry Ford Hosp Med J 37:144-146
15. Seri M, Celli I, Betsos N et al. (1997) A Cys634Gly substitution of the RET proto-oncogene in a family with recurrence of multiple endocrine neoplasia type 2A and cutaneous lichen amyloidosis. Clin Genet 51:86-90
16. Sijmons RH, Hofstra RM, Wijburg FA et al. (1998) Oncological implications of RET gene mutations in Hirschsprung's disease. Gut 43:542-547
17. Eng C, Clayton D, Schuffenecker I et al. (1996) The relationship between specific RET protooncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA 276:1575-1579
18. Moore SW, Zaahl MG (2008) Multiple endocrine neoplasia syndromes, children, Hirschsprung's disease and RET. Pediatr Surg Int 24:521-530
19. Nishikawa M, Murakumo Y, Imai T et al. (2003) Cys611Ser mutation in RET proto-oncogene in a kindred with medullary thyroid carcinoma and Hirschsprung's disease. Eur J Hum Genet 11:364-368
20. Romeo G, Ceccherini I, Celli J et al. (1998) Association of multiple endocrine neoplasia type 2 and Hirschsprung disease. J Intern Med 243:515-520
21. Brandi ML, Gagel RF, Angeli A et al. (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86:5658-5671
22. Yip L, Cote GJ, Shapiro SE et al. (2003) Multiple endocrine neoplasia type 2: Evaluation of the genotype-phenotype relationship. Arch Surg 138:409-416 discussion 16
23. Miller CA, Ellison EC (2005) Multiple endocrine neoplasia Type 2B. In: Clark OH, Duh Q-Y, Kebebew E (eds) Textbook of endocrine surgery, 2nd edn. W.B. Saunders, Philadelphia, pp 757-763
24. Robertson DM, Sizemore GW, Gordon H (1975) Thickened corneal nerves as a manifestation of multiple endocrine neoplasia. Trans Sect Ophthalmol Am Acad Ophthalmol Otolaryngol 79:OP772-OP787
25. Carney JA, Go VL, Sizemore GW et al. (1976) Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b. N Engl J Med 295: 1287-1291
26. Samaan NA, Draznin MB, Halpin RE et al. (1991) Multiple endocrine syndrome type IIb in early childhood. Cancer 68:1832-1834
27. Smith VV, Eng C, Milla PJ (1999) Intestinal ganglioneuromatosis and multiple endocrine neoplasia type 2B: Implications for treatment. Gut 45:143-146
28. Cohen MS, Phay JE, Albinson C et al. (2002) Gastrointestinal manifestations of multiple endocrine neoplasia type 2. Ann Surg 235:648-654 discussion 54-55
29. Lips CJ, Landsvater RM, Hoppener JW et al. (1994) Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med 331:828-835
30. White ML, Doherty GM (2008) Multiple endocrine neoplasia. Surg Oncol Clin N Am 17:439-459, x
31. Wohllk N, Cote GJ, Bugalho MM et al. (1996) Relevance of RET proto-oncogene mutations in sporadic medullary thyroid carcinoma. J Clin Endocrinol Metab 81:3740-3745
32. Elisei R, Romei C, Cosci B et al. (2007) RET genetic screening in patients with medullary thyroid cancer and their relatives: Experience with 807 individuals at one center. J Clin Endocrinol Metab 92:4725-4729
33. Neumann HP, Bausch B, McWhinney SR et al. (2002) Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med 346:1459-1466
34. Fialkowski EA, DeBenedetti MK, Moley JF et al. (2008) RET proto-oncogene testing in infants presenting with Hirschsprung disease identifies 2 new multiple endocrine neoplasia 2A kindreds. J Pediatr Surg 43:188-190
35. Ogilvie JB, Kebebew E (2006) Indication and timing of thyroid surgery for patients with hereditary medullary thyroid cancer syndromes. J Natl Compr Canc Netw 4:139-147
36. Saad MF, Ordonez NG, Rashid RK et al. (1984) Medullary carcinoma of the thyroid. A study of the clinical features and prognostic factors in 161 patients. Medicine (Baltimore) 63:319-342
37. Moley JF, DeBenedetti MK (1999) Patterns of nodal metastases in palpable medullary thyroid carcinoma: Recommendations for extent of noDe dissection. Ann Surg 229:880-887 discussion 7-8
38. Gagel RF, Tashjian AH Jr, Cummings T et al. (1988) The clinical outcome of prospective screening for multiple endocrine neoplasia type 2a. An 18-year experience. N Engl J Med 318:478-484
39. Niccoli-Sire P, Murat A, Baudin E et al. (1999) Early or prophylactic thyroidectomy in MEN 2/FMTC gene carriers: Results in 71 thyroidectomized patients. The French Calcitonin Tumours Study Group (GETC). Eur J Endocrinol 141:468-474
40. Rodriguez GJ, Balsalobre MD, Pomares F et al. (2002) Prophylactic thyroidectomy in MEN 2A syndrome: Experience in a single center. J Am Coll Surg 195:159-166
41. Wells SA Jr, Skinner MA (1998) Prophylactic thyroidectomy, based on direct genetic testing, in patients at risk for the multiple endocrine neoplasia type 2 syndromes. Exp Clin Endocrinol Diabetes 106:29-34
42. Kaufman FR, Roe TF, Isaacs H Jr et al. (1982) Metastatic medullary thyroid carcinoma in young children with mucosal neuroma syndrome. Pediatrics 70:263-267
43. Gill JR, Reyes-Mugica M, Iyengar S et al. (1996) Early presentation of metastatic medullary carcinoma in multiple endocrine neoplasia, type IIA: Implications for therapy. J Pediatr 129: 459-464
44. Hundahl SA, Cady B, Cunningham MP et al. (2000) Initial results from a prospective cohort study of 5583 cases of thyroid carcinoma treated in the United States during 1996. U.S. and German Thyroid Cancer Study Group. An American College of Surgeons Commission on Cancer Patient Care Evaluation study. Cancer 89:202-217
45. Sosa JA, Tuggle CT, Wang TS et al. (2008) Clinical and economic outcomes of thyroid and parathyroid surgery in children. J Clin Endocrinol Metab 93:3058-3065
46. Machens A, Niccoli-Sire P, Hoegel J et al. (2003) Early malignant progression of hereditary medullary thyroid cancer. N Engl J Med 349:1517-1525
47. Skinner MA, Moley JA, Dilley WG et al. (2005) Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. N Engl J Med 353:1105-1113
48. Guillem JG, Wood WC, Moley JF et al. (2006) ASCO/SSO review of current role of riskreducing surgery in common hereditary cancer syndromes. J Clin Oncol 24:4642-4660
49. Simon S, Pavel M, Hensen J et al. (2002) Multiple endocrine neoplasia 2A syndrome: Surgical management. J Pediatr Surg 37:897-900
50. Bae SJ, Kim DJ, Kim JY et al. (2006) A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Korean families with multiple endocrine neoplasia 2A. Thyroid 16:609-614
51. Bethanis S, Koutsodontis G, Palouka T et al. (2007) A newly detected mutation of the RET protooncogene in exon 8 as a cause of multiple endocrine neoplasia type 2A. Hormones (Athens) 6:152-156
52. Jimenez C, Dang GT, Schultz PN et al. (2004) A novel point mutation of the RET protooncogene involving the second intracellular tyrosine kinase domain in a family with medullary thyroid carcinoma. J Clin Endocrinol Metab 89:3521-3526
53. Komminoth P, Kunz EK, Matias-Guiu X et al. (1995) Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas. Cancer 76:479-489
54. Pigny P, Bauters C, Wemeau JL et al. (1999) A novel 9-base pair duplication in RET exon 8 in familial medullary thyroid carcinoma. J Clin Endocrinol Metab 84:1700-1704
55. Ercolino T, Lombardi A, Becherini L et al. (2008) The Y606C RET mutation causes a receptor gain of function. Clin Endocrinol (Oxf) 69:253-258
56. Machens A, Schneyer U, Holzhausen HJ et al. (2004) Emergence of medullary thyroid carcinoma in a family with the Cys630Arg RET germline mutation. Surgery 136:1083-1087
57. Modigliani E, Cohen R, Campos JM et al. (1998) 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) 48:265-273
58. Brauckhoff M, Gimm O, Brauckhoff K et al. (2001) Calcitonin kinetics in the early postoperative period of medullary thyroid carcinoma. Langenbecks Arch Surg 386:434-439
59. Fugazzola L, Pinchera A, Luchetti F et al. (1994) Disappearance rate of serum calcitonin after total thyroidectomy for medullary thyroid carcinoma. Int J Biol Markers 9:21-24
60. Dottorini ME, Assi A, Sironi M et al. (1996) Multivariate analysis of patients with medullary thyroid carcinoma. Prognostic significance and impact on treatment of clinical and pathologic variables. Cancer 77:1556-1565
61. Pellegriti G, Leboulleux S, Baudin E et al. (2003) Long-term outcome of medullary thyroid carcinoma in patients with normal postoperative medical imaging. Br J Cancer 88:1537-1542
62. Traugott A, Moley JF (2005) Medullary thyroid cancer: Medical management and follow-up. Curr Treat Options in Oncol 6:339-346
63. Machens A, Brauckhoff M, Holzhausen HJ et al. (2005) Codon-specific development of pheochromocytoma in multiple endocrine neoplasia type 2. J Clin Endocrinol Metab 90: 3999-4003
64. Rodriguez JM, Balsalobre M, Ponce JL et al. (2008) Pheochromocytoma in MEN 2A syndrome. Study of 54 patients. World J Surg 32:2520-2526
65. Pacak K, Eisenhofer G, Ahlman H et al. (2007) Pheochromocytoma: Recommendations for clinical practice from the First International Symposium, October 2005. Nat Clin Pract Endocrinol Metab 3:92-102
66. Unger N, Pitt C, Schmidt IL et al. (2006) Diagnostic value of various biochemical parameters for the diagnosis of pheochromocytoma in patients with adrenal mass. Eur J Endocrinol 154: 409-417
67. Guller U, Turek J, Eubanks S et al. (2006) Detecting pheochromocytoma: Defining the most sensitive test. Ann Surg 243:102-107
68. Sawka AM, Jaeschke R, Singh RJ et al. (2003) A comparison of biochemical tests for pheochromocytoma: Measurement of fractionated plasma metanephrines compared with the combination of 24-hour urinary metanephrines and catecholamines. J Clin Endocrinol Metab 88:553-558
69. Lenders JW, Pacak K, Walther MM et al. (2002) Biochemical diagnosis of pheochromocytoma: Which test is best? JAMA 287:1427-1434
70. Raber W, Raffesberg W, Bischof M et al. (2000) Diagnostic efficacy of unconjugated plasma metanephrines for the detection of pheochromocytoma. Arch Intern Med 160:2957-2963
71. Gerlo EA, Sevens C (1994) Urinary and plasma catecholamines and urinary catecholamine metabolites in pheochromocytoma: Diagnostic value in 19 cases. Clin Chem 40:250-256
72. Gardet V, Gatta B, Simonnet G et al. (2001) Lessons from an unpleasant surprise: A biochemical strategy for the diagnosis of pheochromocytoma. J Hypertens 19:1029-1035
73. Eisenhofer G, Lenders JW, Linehan WM et al. (1999) Plasma normetanephrine and metanephrine for detecting pheochromocytoma in von Hippel-Lindau disease and multiple endocrine neoplasia type 2. N Engl J Med 340:1872-1879
74. Lairmore TC, Ball DW, Baylin SB et al. (1993) Management of pheochromocytomas in patients with multiple endocrine neoplasia type 2 syndromes. Ann Surg 217:595-601 discussion 3
75. Brunt LM, Lairmore TC, Doherty GM et al. (2002) Adrenalectomy for familial pheochromocytoma in the laparoscopic era. Ann Surg 235:713-720 discussion 20-21
76. Schuffenecker I, Virally-Monod M, Brohet R et al. (1998) Risk and penetrance of primary hyperparathyroidism in multiple endocrine neoplasia type 2A families with mutations at codon 634 of the RET proto-oncogene. Groupe D'etuDe des Tumeurs a Calcitonine. J Clin Endocrinol Metab 83:487-491