A differential diagnosis of inherited endocrine tumors and their tumor counterparts

Clinics

Volumn 68, Issue 7, 2013, Pages 1039-1056

  Toledo, Sergio P A ^a   Lourenço Jr , Delmar M ^a   Toledo, Rodrigo A ^b  

^a UNIVERSITY OF SÃO PAULO   (Brazil)

^b UNIVERSITY OF TEXAS HEALTH SCIENCE CENTER AT SAN ANTONIO   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

DIFFERENTIAL DIAGNOSIS; EARLY DIAGNOSIS; FEMALE; GENETICS; HUMAN; MALE; MULTIPLE ENDOCRINE NEOPLASIA; MUTATION; PANCREAS TUMOR; REVIEW; RISK FACTOR;

DIAGNOSIS, DIFFERENTIAL; EARLY DETECTION OF CANCER; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; MULTIPLE ENDOCRINE NEOPLASIA; PANCREATIC NEOPLASMS; RISK FACTORS;

EID: 84881243586     PISSN: 18075932     EISSN: None     Source Type: Journal    
DOI: 10.6061/clinics/2013(07)24     Document Type: Review

References (198)

1. Leonard JM. Familial endocrine tumors. West J Med. 1980;132(4):352-33.
2. Neumann HPH, Vortmeyer A, Schmidt D, Werner M, Erlic Z, Cascon A, et al. Evidence of MEN-2 in the original description of classic pheochromocytoma. New Eng J Med. 2007;357(13):1311-5, http://dx. doi.org/10.1056/NEJMoa071407.
3. Wermer P. Genetic aspects of adenomatosis of endocrine glands. Am J Med. 1954;16(3):363-71.
4. Carney JA. Familial multiple endocrine neoplasia: the first 100 years. Am J Surg Pathol. 2005;29(2):254-74.
5. Marx SJ. Molecular genetics of multiple endocrine neoplasia types 1 and2. Nat Rev Cancer. 2005;5(5):367-75.
6. Mulligan L, Marsh DJ, Robinson BG, Shuffenecker I, Zedenius J, Lips CJM, et al. Genotype-phenotype correlation in multiple endocrine neoplasia type 2: report of the International RET Mutation Consortium. J Intern Med. 1995;238(4):343-46, http://dx.doi.org/10.1111/j.1365-2796.1995.tb01208.x.
7. Eng C, Clayton D, Schuffenecker I, Lenoir G, Cote G, Gagel RF, 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(19):1575-9, http:// dx.doi.org/10.1001/jama.1996.03540190047028.
8. Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. 2001;86(12):5658-71, http://dx.doi.org/10. 1210/jc.86.12.5658.
9. Kloos RT, Eng C, Evans DB, Francis GL, Gagel RF, Gharib H, et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid. 2009;19(6):565-612, http://dx.doi.org/10. 1089/thy.2008.0403.
10. Thakker RV, Newey J, Walls GV, Bilezikian J, Dralle H, Ebeling PR. et al. Clinical practice guidelines for multiple endocrine neoplasia type 1(MEN1). J Clin Endocrinol Metab. 2012;97(9):2990-3011, http://dx.doi. org/10.1210/jc.2012-1230.
11. Lips CJ, Höppener JW. Ethics: Genetic testing for MEN1-whose responsibility? Nat Rev Endocrinol. 2012;8(10):575-6, http://dx.doi. org/10.1038/nrendo.2012.164.
12. Toledo RA, Sekiya T, Longuini VC, Coutinho FL, Lourenço DM Jr, Toledo SP. Narrowing the gap of personalized medicine in emerging countries: the case of multiple endocrine neoplasias in Brazil. Clinics. 2012;67 Suppl 1:3-6, http://dx.doi.org/10.6061/clinics/2012(Sup01)02.
13. Dammann M, Weber F. Personalized medicine: caught between hope, hype and the real world. Clinics. 2012;67 Suppl 1:91-7, http://dx.doi. org/10.6061/clinics/2012(Sup01)16.
14. Carling T, Correa P, Hessman O, Hedberg J, Skogseid B, Lindberg D et al. Parathyroid MEN1 gene mutations in relation to clinical characteristics of nonfamilial primary hyperparathyroidism. J Clin Endocrinol Metab. 1998;83(8):2960-3, http://dx.doi.org/10.1210/jc.83.8. 2960.
15. Lourenço DM Jr, Toledo RA, Coutinho FL, Margarido LC, Siqueira SA, dos Santos MA, et al. The impact of clinical and genetic screenings on the management of the multiple endocrine neoplasia type 1. Clinics. 2007;62(4):465-76, http://dx.doi.org/10.1590/S1807-593220070004000 14.
16. Lourenço DM Jr, Coutinho FL, Toledo RA, Gonçalves TD, Montenegro FL, Toledo SP. Biochemical, bone and renal patterns in hyperparathyroidism associated with multiple endocrine neoplasia type 1. Clinics. 2012;67Suppl 1:99-108, http://dx.doi.org/10.6061/clinics/2012(Sup01) 17.
17. Machens A, Niccoli-Sire P, Hoegel J, Frank-Raue K, van Vroonhoven TJ, Roeher HD, et al. Multiple Endocrine Neoplasia (EUROMEN) Study Group. Early malignant progression of hereditary medullary thyroid cancer. N Engl J Med. 2003;349(16):1517-25.
18. Machens A, Dralle H. Familial prevalence and age of RET germline mutations: implications for screening. Clin Endocrinol (Oxf). 2008;69 (1):81-87, http://dx.doi.org/10.1111/j.1365-2265.2007.03153.x.
19. Machens A, Dralle H. Multiple endocrine neoplasia type 2: achievements and current challenges. Clinics. 2012;67 Suppl 1:113-118, http:// dx.doi.org/10.6061/clinics/2012(Sup01)19.
20. Toledo SP, dos Santos MA, Toledo RA, Lourenço DM Jr. Impact of RET proto-oncogene analysis on the clinical management of multiple endocrine neoplasia type 2. Clinics. 2006;61(1):59-70, http://dx.doi. org/10.1590/S1807-59322006000100011.
21. Correia-Deur JE, Toledo RA, Imazawa AT, Lourenço DM Jr, Ezabella MC, Tavares MR, et al. Sporadic medullary thyroid carcinoma: clinical data from a university hospital. Clinics. 2009;64(5):379-86.
22. Toledo RA, Wagner SM, Coutinho FL, Lourenço DM Jr, Azevedo JA, Long uini VC, et al. High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene. J Clin Endocrinol Metab. 2010;95(3):1318-27, http://dx. doi.org/10.1210/jc.2009-1355.
23. Burnichon N, Cascón A, Schiavi F, Morales NP, Comino-Méndez I, Abermil N, et al. MAX mutations cause hereditary and sporadic pheochromocytoma and paraganglioma. Clin Cancer Res. 2012;18 (10):2828-37, http://dx.doi.org/10.1158/1078-0432.CCR-12-0160.
24. Qin Y, Yao L, King EE, Buddavarapu K, Lenci RE, Chocron ES, et al. Germline mutations in TMEM127 confer susceptibility to pheochromocytoma. Nat Genet. 2010;42(3):229-233, http://dx.doi.org/10.1038/ng. 533.
25. Yao L, Schiavi F, Cascon A, Qin Y, Inglada-Pérez L, King EE, et al. Spectrum and prevalence of FP/TMEM127 gene mutations in pheochromocytomas and paragangliomas. JAMA. 2010;304(23):2611-9, http://dx.doi.org/10.1001/jama.2010.1830.
26. Daly AF, Tichomirowa MA, Petrossians P, Heliövaara E, Jaffrain-Rea ML, Barlier A, et al. Clinical characteristics and therapeutic responses in patients with germ-line AIP mutations and pituitary adenomas: an international collaborative study. J Clin Endocrinol Metab. 2010;95 (11):E373-383, http://dx.doi.org/10.1210/jc.2009-2556.
27. Vezzosi D, Vignaux O, Dupin N, Bertherat J. Carney complex: Clinical and genetic 2010 update. Ann Endocrinol (Paris). 2010;71(6):486-493, http://dx.doi.org/10.1016/j.ando.2010.08.002.
28. Maher ER, Neumann HP, Richard S. von Hippel-Lindau disease: a clinical and scientific review. Eur J Hum Genet. 2011;19(6):617-23.
29. Stratakis CA, Schussheim DH, Freedman SM, Keil MF, Pack SD, Agarwal SK, et al. Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1. J Clin Endocrinol Metab. 2000;85(12):4776-80, http://dx.doi.org/10.1210/jc.85.12.4776.
30. Bausch B, Koschker AC, Fassnacht M, Stoevesandt J, Hoffmann MM, Eng C, et al. Comprehensive mutation scanning of NF1 in apparently sporadic cases of pheochromocytoma. J Clin Endocrinol Metab. 2006;91(9):3478-81, http://dx.doi.org/10.1210/jc.2006-0780.
31. Rubin MR, Bilezikian JP, McMahon DJ, Jacobs T, Shane E, Siris E, et al. The natural history of primary hyperparathyroidism with or without parathyroid surgery after 15 years. J Clin Endocrinol Metab. 2008; 93(9):3462-3470, http://dx.doi.org/10.1210/jc.2007-1215.
32. Lourenco DM Jr, Coutinho FL, Toledo RA, Gonçalvez TD, Montenegro FLM, Toledo SPA. Biochemical, bone, and renal patterns in hyperparathyroidism associated with multiple endocrine neoplasia type 1. Clinics. 2012;67 Suppl 1:99-108, http://dx.doi.org/10.6061/clinics/ 2012(Sup01)17.
33. Akerström G, Sta°lberg P, Hellman P. Surgical management of pancreatico-duodenal tumors in multiple endocrine neoplasia syndrome type 1. Clinics. 2012;67 Suppl 1:173-8, http://dx.doi.org/10. 6061/clinics/2012(Sup01)29.
34. Machado MC. Surgical treatment of pancreatic endocrine tumors in multiple endocrine neoplasia type 1. Clinics. 2012;67 Suppl 1:145-8, http://dx.doi.org/10.6061/clinics/2012(Sup01)24.
35. Oberg K. Diagnostic work-up of gastroenteropancreatic neuroendocrine tumors. Clinics. 2012;67 Suppl 1:109-12, http://dx.doi.org/10.6061/ clinics/2012(Sup01)18.
36. Stratakis CA, Kirschner LS, Carney JA. Clinical and molecular features of the Carney complex: diagnostic criteria and recommendations for patient evaluation. J Clin Endocrinol Metab. 2001;86(9):4041-6, http:// dx.doi.org/10.1210/jc.86.9.4041.
37. Stratakis CA, Tichomirowa MA, Boikos S, Azevedo MF, Lodish M, Martari M, et al. The role of germline AIP, MEN1, PRKAR1A, CDKN1B and CDKN2C mutations in causing pituitary adenomas in a large cohort of children, adolescents, and patients with genetic syndromes. Clin Genet. 2010;78(5):457-63, http://dx.doi.org/10.1111/j.1399-0004. 2010.01406.x.
38. Machens A, Gimm O, Hinze R, Hoppner W, Bohem BO, Dralle H. Genotype-phenotype correlations in hereditary medullary thyroid carcinoma: oncological features and biochemical properties. J Clin Endocrinol Metab. 2001;86(3):1104-9, http://dx.doi.org/10.1210/jc.86.3. 1104.
39. Hayashida CY, Alves VA, Kanamura CT, Ezabella MC, Abelin NM, Nicolau W, et al. Immunohistochemistry of medullary thyroid carcinoma and C-cell hyperplasia by an affinity-purified anti-human calcitonin antiserum. Cancer. 1993;72(4):1356-63, http://dx.doi.org/10. 1002/1097-0142(19930815)72:4,1356::AID-CNCR2820720434.3.0.CO;2-0.
40. Tavares MR, Toledo SP, Montenegro FL, Moyses RA, Toledo RA, Sekyia T, et al. Surgical approach to medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2. Clinics. 2012;67 Suppl 1:149-54, http://dx.doi.org/10.6061/clinics/2012(Sup01)25.
41. Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, et al. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science. 2006;312(5777):1228-30, http://dx.doi.org/10. 1126/science.1126100.
42. Toledo RA, Lourenço DM Jr, Liberman B, Cunha-Neto MB, Cavalcanti MG, Moyses CB, et al. Germline mutation in the aryl hydrocarbon receptor interacting protein gene in familial somatotropinoma. J Clin Endocrinol Metab. 2007;92(5):1934-7, http://dx.doi.org/10.1210/jc. 2006-2394.
43. Verges B, Boureille F, Goudet P, Murat A, Beckers A, Sassolas G, et al. Pituitary Disease in MEN Type 1 (MEN1): Data from the France-Belgium MEN1 Multicenter Study J. Clin. Endocrinol. Metab. 2002;87 (2):457-65, http://dx.doi.org/10.1210/jc.87.2.457.
44. Lourenço Jr DM, Toledo RA, Mackowiak II, Coutinho FL, Cavalcanti MG, Correia-Deur, et al. Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical features, and bone mineral density profile. Europ J Endocrinol. 2008;159(3):259-74.
45. Lourenco DM Jr, Coutinho FL, Toledo RA, Montenegro FL, Correa-Deur JE, Toledo SP. Early-onset, progressive, frequent, extensive, and severe boné mineral and renal complications in multiple endocrine neoplasia type 1-associated primary hyperparathyrodism. J Bone Miner Res. 2010;25(11):2382-91, http://dx.doi.org/10.1002/jbmr.125.
46. Modigliani E, Coben R, Campos JM, Conte-Devolx B, Maes B, Boneu A, et al. 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(3):265-73, http://dx.doi.org/10.1046/j.1365-2265.1998. 00392.x.
47. Gill JR, Reyes-Mugica M, Iyengar S, Kidd KK, Touloukian RJ, Smith C, et al. Early presentation of metastatic medullary cancer on multiple endocrine neoplasia, type IIA: implications for therapy. J Pediatr. 1996;129(3):459-64, http://dx.doi.org/10.1016/S0022-3476(96)70084-7.
48. de Groot JWB, Links TP, Plukker JTM, Lips CJM, Hofstra RMW. RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors. Endocr Rev. 2006;27(5):535-60, http://dx.doi.org/ 10.1210/er.2006-0017.
49. Montenegro FL, Lourenço DM Jr, Tavares MR, Arap SS, Nascimento CP Jr, Massoni Neto LM, et al. Total parathyroidectomy in a large cohort of cases with hyperparathyroidism associated with multiple endocrine neoplasia type 1: experience from a single academic center. Clinics. 2012;67 Suppl 1:131-9, http://dx.doi.org/10.6061/clinics/2012(Sup01) 22.
50. Coutinho FL, Lourenço DM Jr, Toledo RA, Montenegro FL, Correia-Deur JE, Toledo SP. Bone mineral density analysis in patients with primary hyperparathyroidism associated with multiple endocrine neoplasia type 1 after total parathyroidectomy. Clin Endocrinol (Oxf). 2010;72(4):462-8, http://dx.doi.org/10.1111/j.1365-2265.2009.03672.x.
51. Coutinho FL, Lourenco DM Jr, Toledo RA, Montenegro FL, Toledo SP. Post-surgical follow-up of primary hyperparathyroidism associated with multiple endocrine neoplasia type 1. Clinics. 2012;67 Suppl 1:169-72, http://dx.doi.org/10.6061/clinics/2012(Sup01)28.
52. Giusti F, Tonelli F, Brandi ML. Primary hyperparathyroidism in multiple endocrine neoplasia type 1: when to perform surgery? Clinics. 2012;67 Suppl 1:141-4, http://dx.doi.org/10.6061/clinics/ 2012(Sup01)23.
53. Melmed S. Acromegaly. N Engl J Med. 2006;355(24):2558-73.
54. Pellegata NS. MENX and MEN4. Clinics. 2012;67 Suppl 1:13-18, http:// dx.doi.org/10.6061/clinics/2012(Sup01)04.
55. Toledo RA, Sekiya T, Horvath A, Faucz F, Fragoso MC, Longuini VC, et al. Assessing the emerging oncogene protein kinase C epsilon as a candidate gene in families with Carney complex-2. Clin Endocrinol (Oxf). 2012;76(1):147-8, http://dx.doi.org/10.1111/j.1365-2265.2011.04144.x.
56. Erlic Z, Rybicki L, Peczkowska M, Golcher H, Kann PH, Brauckhoff M, et al. Clinical predictors and algorithm for the genetic diagnosis of pheochromocytoma patients. Clin Cancer Res. 2009;15(20):6378-85, http://dx.doi.org/10.1158/1078-0432.CCR-09-1237.
57. Tonelli F, Giudici F, Cavalli T, Brandi ML. Surgical approach in patients with hyperparathyroidism in multiple endocrine neoplasia type 1: total versus partial parathyroidectomy. Clinics. 2012;67 Suppl 1:155-60, http://dx.doi.org/10.6061/clinics/2012(Sup01)26.
58. Falchetti A, Brandi ML. Multiple endocrine neoplasia type I variants and phenocopies: more than a nosological issue? J Clin Endocrinol Metab. 2009;94(5):1518-20, http://dx.doi.org/10.1210/jc.2009-0494.
59. Nunes AB, Ezabella MC, Pereira AC, Krieger JE, Toledo SP. A novel Val648Ile substitution in RET protooncogene observed in a Cys634Arg multiple endocrine neoplasia type 2A kindred presenting with an adrenocorticotropin-producing pheochromocytoma. J Clin Endocrinol Metab. 2002;87(12):5658-61, http://dx.doi.org/10.1210/jc.2002-020345.
60. Peltonen L, Palotie A, Lange K. Use of population isolates for mapping complex traits. Nat Rev Genet. 2000;1(3):182-90, http://dx.doi.org/10. 1038/35042049.
61. Frank-Raue K, Rybicki LA, Erlic Z, Schweizer H, Winter A, Milos I, et al. International RET Exon 10 Consortium. Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. Hum Mutat. 2011;32(1):51-8, http://dx.doi.org/10.1002/humu.21385.
62. Machens A, Dralle H. Prophylactic thyroidectomy in RET carriers at risk for hereditary medullary thyroid cancer. Thyroid. 2009;19(6):551-4, http://dx.doi.org/10.1089/thy.2009.0144.
63. Pinto EM, Billerbeck AE, Villares MC, Domenice S, Mendonça BB, Latronico AC. Founder effect for the highly prevalent R337H mutation of tumor suppressor p53 in Brazilian patients with adrenocortical tumors. Arq Bras Endocrinol Metabol. 2004;48(5):647-50.
64. Schiavi F, Demattè S, Cecchini ME, Taschin E, Bobisse S, Del Piano A, et al. The endemic paraganglioma syndrome type 1: origin, spread, and clinical expression. J Clin Endocrinol Metab. 2012;97(4):E637-41.
65. Chahal HS, Stals K, Unterlander M, Balding DJ, Thomas MG, Kumar AV, et al. AIP mutation in pituitary adenomas in the 18th century and today. New Eng. J. Med. 2011;364(1):43-50, http://dx.doi.org/10.1056/ NEJMoa1008020.
66. Knudson AG Jr, 1971. Mutation and cancer: statistical study of retinoblastoma. Proc Natl Acad Sci U S A. 1971;68(4):820-3, http://dx. doi.org/10.1073/pnas.68.4.820.
67. Koch CA, Pack K, Chrousos GP. The molecular pathogenesis of hereditary and sporadic adrenocortical and adrenomedullary tumors. J Clin Endocrinol Metab. 2002;87(12):5367-84, http://dx.doi.org/10. 1210/jc.2002-021069.
68. Lips CJ, Landsvater RM, Höppener JW, Geerdink RA, Blijham G, van Veen JM, et al. Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med. 1994;331(13):828-35.
69. Sanso GE, Domene HM, Garcia R, Pusiol E, Roque M, Ring A, et al. Very early detection of RET proto-oncogene mutation is crucial for preventive thyroidectomy in multiple endocrine neoplasia type 2 children: presence of C-cell malignant disease in asymptomatic carriers. Cancer. 2002;94(2):323-30, http://dx.doi.org/10.1002/cncr.10228.
70. Puñales MK, da Rocha AP, Meotti C, Gross JL, Maia AL. Clinical and oncological features of children and young adults with multiple endocrine neoplasia type 2A. Thyroid. 2008;18(12):1261-8, http://dx. doi.org/10.1089/thy.2007.0414.
71. Diaz RE, Wohllk N. Multiple endocrine neoplasia; the Chilean experience. Clinics. 2012;67 Suppl 1:7-11, http://dx.doi.org/10.6061/ clinics/2012(Sup01)03.
72. Pieterman CR, Schreinemakers JM, Koppeschaar HP, Vriens MR, Rinkes IH, Zonnenberg BA et al. Multiple endocrine neoplasia type 1 (MEN1): its manifestations and effect of genetic screening on clinical outcome. Clin Endocrinol (Oxf). 2009;70(4):575-81, http://dx.doi.org/ 10.1111/j.1365-2265.2008.03324.x.
73. Lips CJ, Höppener JW, Van Nesselrooij BP, Van der Luijt RB. Counselling in multiple endocrine neoplasia syndromes: from individual experience to general guidelines. J Intern Med. 2005;257(1):69-77, http://dx.doi.org/10.1111/j.1365-2796.2004.01429.x.
74. Gopie JP, Vasen HF, Tibben A. Surveillance for hereditary cancer: Does the benefit outweigh the psychological burden?-A systematic review. Crit Rev Oncol Hematol. 2012;83(3):329-40, http://dx.doi.org/ 10.1016/j.critrevonc.2012.01.004.
75. Erlic Z, Hoffmann MM, Sullivan M, Franke G, Peczkowska M, Harsch I, et al. Pathogenicity of DNA variants and double mutations in multiple endocrine neoplasia type 2 and von Hippel-Lindau syndrome. J Clin Endocrinol Metab. 2010;95(1):308-13, http://dx.doi.org/10.1210/jc. 2009-1728.
76. Barontini M, Levin G, Sanso G. Characteristics of pheochromocytoma in a 4-to 20-year-old population. Ann N Y Acad Sci. 2006;1073(8):30-7.
77. Jensen RT, Berna MJ, Bingham DB, Norton JA. Inherited pancreatic endocrine tumor syndromes: advances in molecular pathogenesis, diagnosis, management, and controversies. Cancer. 2008;113(7 Suppl):1807-43, http://dx.doi.org/10.1002/cncr.23648.
78. Offergeld C, Brase C, Yaremchuk S, Mader I, Rischke HC, Gläsker S, et al. Head and neck paragangliomas: clinical and molecular genetic classification. Clinics. 2012;67 Suppl 1:19-28, http://dx.doi.org/10. 6061/clinics/2012(Sup01)05.
79. von Dücker L, Walz MK, Voss C, Arnold G, Eng C, Neumann HP. Laparoscopic organ-sparing resection of von Hippel-Lindau diseaseassociated pancreatic neuroendocrine tumors. World J Surg. 2011;35 (3):563-7, http://dx.doi.org/10.1007/s00268-010-0878-5.
80. Asher KP, Gupta GN, Boris RS, Pinto PA, Linehan WM, Bratslavsky G. Robot-assisted laparoscopic partial adrenalectomy for pheochromocytoma: the National Cancer Institute technique, Eur Urol. 2011;60(1):118-24, http://dx.doi.org/10.1016/j.eururo.2011.03.046.
81. Weisbrod AB, Liewehr DJ, Steinberg SM, Patterson EE, Libutti SK, Linehan WM, et al. Association of type O blood with pancreatic neuroendocrine tumors in Von Hippel-Lindau syndrome. Ann Surg Oncol. 2012;19(6):2054-9, http://dx.doi.org/10.1245/s10434-012-2276-8.
82. Mannelli M, Lenders JW, Pacak K, Parenti G, Eisenhofer G. Subclinical phaeochromocytoma. Best Pract Res Clin Endocrinol Metab. 2012;26(4):507-15, http://dx.doi.org/10.1016/j.beem.2011.10.008.
83. Ali T, Kandil D, Piperdi B. Long-term disease control with sunitinib in a patient with metastatic pancreatic neuroendocrine tumor (NET) associated with Von Hippel-Lindau syndrome (VHL). Pancreas. 2012;41(3):492-3, http://dx.doi.org/10.1097/MPA.0b013e31822a645e.
84. Stratakis CA, Carney JA, Lin JP, Papanicolaou DA, Karl M, Kastner DL, et al. Carney complex, a familial multiple neoplasia and lentiginosis syndrome. Analysis of 11 kindreds and linkage to the short arm of chromosome 2. J Clin Invest. 1996;97(3):699-705, http://dx.doi.org/10. 1172/JCI118467.
85. Vezzosi D, Bertherat J, Groussin L. Pathogenesis of benign adrenocortical tumors. Best Pract Res Clin Endocrinol Metab. 2010;24(6):893-905, http://dx.doi.org/10.1016/j.beem.2010.10.005.
86. Carney JA, Stratakis CA. Virilizing ovarian stromal tumor in a young woman with Carney complex. Am J Surg Pathol. 2011;35(10):1592-1599.
87. Nozières C, Berlier P, Dupuis C, Raynaud-Ravni C, Morel Y, Chazot FB, et al. Sporadic and genetic forms of paediatric somatotropinoma: a retrospective analysis of seven cases and a review of the literature. Orphanet J Rare Dis. 2011;24;6:67, http://dx.doi.org/10.1186/1750-1172-6-67.
88. Anselmo J, Medeiros S, Carneiro V, Greene E, Levy I, Nesterova M, et al. A large family with Carney complex caused by the S147G PRKAR1A mutation shows a unique spectrum of disease including adrenocortical cancer. J Clin Endocrinol Metab. 2012;97(2):351-359, http://dx.doi.org/ 10.1210/jc.2011-2244.
89. Morin E, Mete O, Wasserman J, Joshua AM, Asa SL. Carney complex with adrenal cortical carcinoma. J Clin Endocrinol Metab. 2012;97(2): E202-206, http://dx.doi.org/10.1210/jc.2011-2321.
90. Bertherat J. Adrenocortical cancer in Carney complex: a paradigm of endocrine tumor progression or an association of genetic predisposition factors? J Clin Endocrinol Metab. Metab. 2012;97(2):387-390, http://dx. doi.org/10.1210/jc.2011-3327.
91. Briassoulis G, Kuburovic V, Xekouki P, Patronas N, Keil MF, Lyssikatos C, Stajevic M, Kovacevic G, Stratakis CA. Recurrent left atrial myxomas in Carney complex: a genetic cause of multiple strokes that can be prevented. J Stroke Cerebrovasc Dis. 2012;21(8):914. e1-8, http://dx.doi. org/10.1016/j.jstrokecerebrovasdis.2012.01.006.
92. Welander J, Söderkvist P, Gimm O. Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer. 2011;18(6):R253-276, http://dx.doi.org/10.1530/ERC-11-0170.
93. Lodish MB, Stratakis CA. Endocrine tumours in neurofibromatosis type 1, tuberous sclerosis and related syndromes. Best Pract Res Clin Endocrinol Metab. 2010;24(3):439-449, http://dx.doi.org/10.1016/j. beem.2010.02.002.
94. Uhlmann EJ, Plotkin SR. Neurofibromatoses. Adv Exp Med Biol. 2012;724:266-77, http://dx.doi.org/10.1007/978-1-4614-0653-2_20.
95. Stumpf DA, Alksne JF, Annegers JF, Neurofibromatosis. Conference statement. National Institutes of Health Consensus Development Conference. Arch Neurol. 1988;45(5):575-578.
96. Brunetti-Pierri N, Doty SB, Hicks J, Phan K, Mendoza-Londono R, Blazo M, et al. Generalized metabolic bone disease in Neurofibromatosis type I. Mol Genet Metab. 2008;94(1):105-111, http://dx.doi.org/10.1016/j. ymgme.2007.12.004.
97. Wang W, Nyman JS, Ono K, Stevenson DA, Yang X, Elefteriou F. Mice lacking Nf1 in osteochondroprogenitor cells display skeletal dysplasia similar to patients with neurofibromatosis type I. Hum Mol Genet. 2011;20(20):3910-3924, http://dx.doi.org/10.1093/hmg/ddr310.
98. Roach ES, Gomez MR, Northrup H. Tuberous sclerosis complex consensus conference: revised clinical diagnostic criteria. J Child Neurol. 1998;13(12):624-628, http://dx.doi.org/10.1177/088307389801301206.
99. Arva NC, Pappas JG, Bhatla T, Raetz EA, Macari M, Ginsburg HB, et al. Well-differentiated pancreatic neuroendocrine carcinoma in tuberous sclerosis--case report and review of the literature. Am J Surg Pathol. 2012;36(1):149-153, http://dx.doi.org/10.1097/PAS.0b013e31823d0560.
100. Ehninger D. From genes to cognition in tuberous sclerosis: implications for mTOR inhibitotr-based treatment approaches. Neuropharmacol. 2013;68(5):97-105, http://dx.doi.org/10.1016/j.neuropharm.2012.05. 015.
101. Malkin D. Li-fraumeni syndrome. Genes Cancer. 2011;2(4):475-484, http://dx.doi.org/10.1177/1947601911413466.
102. Ognjanovic S, Olivier M, Bergemann TL, Hainaut P. Sarcomas in TP53 germline mutation carriers: a review of the IARC TP53 database. Cancer. 2012;118(5):1387-1396, http://dx.doi.org/10.1002/cncr.26390.
103. Else T. Association of adrenocortical carcinoma with familial cancer susceptibility syndromes. Mol Cell Endocrinol. 2012;351(1):66-70, http://dx.doi.org/10.1016/j.mce.2011.12.008.
104. Ribeiro RC, Sandrini F, Figueiredo B, Zambetti GP, Michalkiewicz E, Lafferty AR et al. An inherited p53 mutation that contributes in a tissuespecific manner to pediatric adrenal cortical carcinoma. Proc Natl Acad Sci USA. 2001;98(16):9330-9335., http://dx.doi.org/10.1073/pnas. 161479898.
105. Latronico AC, Pinto EM, Domenice S, Fragoso MC, Martin RM, Zerbini MC, et al. An inherited mutation outside the highly conserved DNAbinding domain of the p53 tumor suppressor protein in children and adults with sporadic adrenocortical tumors. J Clin Endocrinol Metab. 2001;86(10):4970-4973, http://dx.doi.org/10.1210/jc.86.10.4970.
106. Garritano S, Gemignani F, Palmero EI, Olivier M, Martel-Planche G, Le Calvez-Kelm F, et al. Detailed haplotype analysis at the TP53 locus in p. R337H mutation carriers in the population of Southern Brazil: evidence for a founder effect. Hum Mutat. 2010;31(2):143-150, http:// dx.doi.org/10.1002/humu.21151.
107. Pinto EM, Ribeiro RC, Kletter GB, Lawrence JP, Jenkins JJ, Wang J, et al. Inherited germline TP53 mutation encodes a protein with an aberrant Cterminal motif in a case of pediatric adrenocortical tumor. Fam Cancer. 2011;10(1):141-146, http://dx.doi.org/10.1007/s10689-010-9392-z.
108. Ribeiro RC, Pinto EM, Zambetti GP, Rodriguez-Galindo C. The International Pediatric Adrenocortical Tumor Registry initiative: contributions to clinical, biological, and treatment advances in pediatric adrenocortical tumors. Mol Cell Endocrinol. 2012;351(1):37-43, http:// dx.doi.org/10.1016/j.mce.2011.10.015.
109. Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet. 2000;37(11):828-830, http://dx.doi. org/10.1136/jmg.37.11.828.
110. Son EJ, Nosé V. Familial follicular cell-derived thyroid carcinoma. Front Endocrinol (Lausanne). 2012;3:61. doi: 10.3389.
111. Wohllk N, Schweizer H, Eric Z, Schmid KW, Walz MK, Raue F, et al. Multiple endocrine neoplasia type 2. Best Pract Res Clin Endocrinol Metab. 2010;24(3):371-387, http://dx.doi.org/10.1016/j.beem.2010.02. 001.
112. Raue F, Frank-Raue K. Genotype-phenotype correlation in multiple endocrine neoplasia type 2. Clinics. 2012;67 Suppl 1:69-75, http://dx. doi.org/10.6061/clinics/2012(Sup01)13.
113. Wagner SM, Zhu S, Nicolescu AC, Mulligan LM. Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2. Clinics. 2012;67 Suppl 1:77-84, http://dx.doi.org/10.6061/ clinics/2012(Sup01)14.
114. Moura MM, Cavaco BM, Pinto AE, Leite V. High prevalence of RAS mutations in RET-negative sporadic medullary thyroid carcinomas. J Clin Endocrinol Metab. 2011;96(5):E863-868, http://dx.doi.org/10. 1210/jc.2010-1921.
115. Agrawal N, Jiao Y, Sausen M, Leary R, Bettegowda C, Roberts NJ, et al. Exomic Sequencing of Medullary Thyroid Cancer Reveals Dominant and Mutually Exclusive Oncogenic Mutations in RET and RAS. J Clin Endocrinol Metab. 2013;98(2):E364-369, http://dx.doi.org/10.1210/jc. 2012-2703.
116. Qi XP, Ma JM, Du ZF, Ying RB, Fei J, Jin HY, et al. RET germline mutations identified by exome sequencing in a Chinese multiple endocrine neoplasia type 2A/familial medullary thyroid carcinoma family. PLoS One. 2011;6(5):e20353, http://dx.doi.org/10.1371/journal. pone.0020353.
117. Conzo G, Circelli L, Pasquali D, Sinisi A, Sabatino L, et al. Lessons to be learned from clinical management of a MEN2A patient bearing a novel 634/640/700 mutation of the RET prto-oncogene. Clin Endocrinol. Clin Endocrinol 2012;77(6):934-936, http://dx.doi.org/10.1111/j.1365-2265. 2012.04412.x.
118. Elisei R, Cosci B, Romei C, Bottici V, Renzini G, Molinaro E, et al. Prognostic significance of somatic RET oncogene mutations in sporadic medullary thyroid cancer: a 10-year follow-up study. J Clin Endocrinol Metab. 2008;93(3):682-687.
119. Berndt I, Reuter M, Saller B, Frank-Raue K, Groth P, Grussendorf M, et al. A new hot spot for mutations in the ret protooncogene causing familial medullary thyroid carcinoma and multiple endocrine neoplasia type 2A. J Clin Endocrinol Metab. 1998;83(3):770-774, http://dx.doi. org/10.1210/jc.83.3.770.
120. Cosci B, Vivaldi A, Romei C, Genignani F, Landi S, Ciampi R, et al. In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with mrdullary thyroid carcinoma. Endocr Relat Cancer. 2011;18(5):603-612, http://dx.doi.org/10.1530/ERC-11-0117.
121. Machens A, Frank-Raue K, Lorenz K, Rondot S, Raue F, Dralle H. Clinical relevance of RET variants G691S, L769L, S836S and S904S to sporadic medullary thyroid cancer. Clin Endocrinol (Oxf). 2012;76 (5):691-697, http://dx.doi.org/10.1111/j.1365-2265.2011.04293.x.
122. Ceolin L, Siqueira DR, Ferreira CV, Romitti M, Maia SC, Leiria L, et al. Additive effect of RET polymorphisms on sporadic medullary thyroid carcinoma susceptibility and tumor aggressiveness. Eur J Endocrinol. 2012;166(5):847-854.
123. Lendvai N, Tóth M, Valkusz Z, Beko{double acute accent} G, Szücs N, Csajbók E, et al. Overrepresentation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome. Clinics. 2012;67 Suppl 1:85-89, http://dx.doi. org/10.6061/clinics/2012(Sup01)15.
124. Menko FH, van der Luijt RB, de Valk IA, Toorians AW, Sepers JM, van Diest PJ, et al. Atypical MEN type 2B associated with two germline RET mutations on the same allele not involving codon 918. J Clin Endocrinol Metab. Metab. 2002;87(1):393-397, http://dx.doi.org/10.1210/jc.87.1. 393.
125. Elisei R, Cosci B, Romei C, Agate L, Piampiani P, Miccoli P, et al. Identification of a novel point mutation in the RET gene (Ala883Thr), which is associated with medullary thyroid carcinoma phenotype only in homozygous condition. J Clin Endocrinol Metab. 2004;89(11):5823-5827, http://dx.doi.org/10.1210/jc.2004-0312.
126. Mukherjee S, Zakalik D. RET codon 804 mutations in multiple endocrine neoplasia 2: genotype-phenotype correlations and implications in clinical management. Clin Genet. 2011;79 (1):1-16, http://dx. doi.org/10.1111/j.1399-0004.2010.01453.x.
127. Lindsey SC, Kunii IS, Germano-Neto F, Sittoni MY, Camacho CP, Valente FO, et al. Extended RET Gene Analysis in Patients with Apparently Sporadic Medullary Thyroid Cancer: Clinical Benefits and Cost. Horm Cancer. 2012;3(4):181-186, http://dx.doi.org/10.1007/ s12672-012-0109-7.
128. Moore SW, Zaahl M. The Hirschsprung's-multiple endocrine neoplasia connection. Clinics. 2012;67 Suppl 1:63-67, http://dx.doi.org/10.6061/ clinics/2012(Sup01)12.
129. Quedas EP, Longuini VC, Sekiya T, Coutinho FL, Toledo SP, Tannuri U, et al. RET haplotype, not linked to the C620R activating mutation, associated with Hirschsprung disease in a novel MEN2 family. Clinics. 2012;67 Suppl 1:57-61, http://dx.doi.org/10.6061/clinics/2012(Sup01) 11.
130. Hyndman BD, Gujral TS, Krieger JR, Cockburn JG, Mulligan LM. Multiple functional effects of RET kinase domain sequence variants in Hirschsprung disease. Hum Mutat. 2013;34 (1): 132-142, http://dx.doi. org/10.1002/humu.22170.
131. Mian C, Sartorato P, Barollo S, Zane M, Opocher G. RET codon 609 mutations: a contribution for better clinical managing. Clinics. 2012;67 Suppl 1:33-36, http://dx.doi.org/10.6061/clinics/2012(Sup01) 07.
132. Vasen HF, Nieuwenhuijzen Kruseman AC, Moers AM, Lips CJ, Beukers EK, et al. MEN-2 syndrome: the value of screening and central registration; a study of six kindreds in The Netherlands. Am J Med. 1987;35 (2-3):101-103.
133. Lips CJ, Landsvater RM, Höppener JW, Geerdink RA, Blijham G, van Veen JM, et al. Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A. N Engl J Med. 1994;331(13):828-835.
134. Ezabella MC, Hayashida CY, Bisi H, Leite MO, Borelli A, Abelin NM, et al. Early detection of medullary thyroid carcinoma in multiple endocrine neoplasia type II. Rev Hosp Clin Fac Med Sao Paulo. 1990;45(3):105-109.
135. Machens A, Dralle H. Simultaneous medullary and papillary thyroid cancer: a novel entity? Ann Surg Oncol. 2012;19(1):37-44, http://dx.doi. org/10.1245/s10434-011-1795-z
136. Toledo SP, Lourenço DM Jr, Santos MA, Tavares MR, Toledo RA, Correia-Deur JE. Hypercalcitoninemia is not pathognomonic of medullary thyroid carcinoma. Clinics. 2009;64(7):699-706.
137. Costante G, Meringolo D, Durante C, Bianchi D, Nocera M, Tumino S, et al. Predictive value of serum calcitonin levels for preoperative diagnosis of medullary thyroid carcinoma in a cohort of 5817 consecutive patients with thyroid nodules. J Clin Endocrinol Metab. 2007;92(2):450-455.
138. Romei C, Mariotti S, Fugazzola L, Taccaliti A, Pacini F, Opocher G, et al. Multiple endocrine neoplasia type 2 syndromes (MEN 2): results from the ItaMEN network analysis on the prevalence of different genotypes and phenotypes. Eur J Endocrinol. 2010;163(2):301-308.
139. Da Silva AM, Maciel RM, Da Silva MR, Toledo SR, De Carvalho MB, Cerutti JM. A novel germ-line point mutation in RET exon 8 (Gly(533)Cys) in a large kindred with familial medullary thyroid carcinoma. J Clin Endocrinol Metab. 2003;88(11):5438-5443, http://dx. doi.org/10.1210/jc.2003-030997.
140. Muzza M, Cordella D, Bombled J, Bressac-de Paillerets B, Guizzardi F, Francis Z, et al. Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro. Eur J Endocrinol. 2010;162(4):771-777.
141. Hisano M, Vicentini FC, Srougi M. Retroperitoneoscopic adrenalectomy in pheochromocytoma. Clinics. 2012;67 Suppl 1:161-167, http://dx.doi. org/10.6061/clinics/2012(Sup01)27.
142. Schlumberger M, Massicotte MH, Nascimento CL, Chougnet C, Baudin E, Leboulleux S. Kinase inhibitors for advanced medullary thyroid carcinoma. Clinics. 2012;67 Suppl 1:125-129, http://dx.doi.org/10. 6061/clinics/2012(Sup01)21.
143. Lips CJ, Dreijerink KM, Hoppener JW. Variable clinical expression in patients with a germline MEN1 disease gene mutation: clues to a genetype-phenotype correlation. Clinics. 2012;67 Suppl 1:49-56, http:// dx.doi.org/10.6061/clinics/2012(Sup01)10.
144. Lairmore TC, Piersall LD, DeBenedetti MK, Dilley WG, Mutch MG, Whelan AJ, et al. Clinical genetic testing and early surgical intervention in patients with multiple endocrine neoplasia type 1 (MEN 1). 2004;239 (5):637-645.
145. Machens A, Schaaf L, Karges W. Age-related penetrance of endocrine tumors in multiple endocrine neoplasia type 1(MEN1): a multicentre study of 258 gene carriers. Clin Endocrinol 2007;67(4):613-622.
146. Syro LV, Scheithauer BW, Kovacs K, Toledo RA, Londoño FJ, Ortiz LD, et al. Pituitary tumors in patients with MEN1 syndrome. Clinics. 2012;67 Suppl 1:43-48, http://dx.doi.org/10.6061/clinics/2012(Sup01) 09.
147. de Herder WW. Familial gigantism. Clinics. 2012;67 suppl 1: 29-32, http://dx.doi.org/10.6061/clinics/2012(Sup01)06
148. Ortiz LD, Syro LV, Scheithauer BW, Rotondo F, Uribe H, Fadul CE, et al. Temozolomide in aggressive pituitary adenomas and carcinomas. Clinics. 2012;67 Suppl 1:119-123, http://dx.doi.org/10.6061/clinics/ 2012(Sup01)20.
149. Farrell WE, Azevedo MF, Batista DL, Smith A, Bourdeau I, Horvath A, et al. Unique gene expression profile associated with an early-onset multiple endocrine neoplasia (MEN1)-associated pituitary adenoma. J Clin Endocrinol Metab. 2011;96 (11): E1905-914, http://dx.doi.org/10. 1210/jc.2011-1127.
150. Simonds WF, Varghese S, Marx SJ, Nieman LK. Cushing's syndrome in multiple endocrine neoplasia type 1. Clin Endocrinol (Oxf). 2012;76 (3):379-386, http://dx.doi.org/10.1111/j.1365-2265.2011.04220.x.
151. Agarwal SK, Ozawa A, Mateo CM, Marx SJ. The MEN1 gene and pituitary tumours. Horm Res. 2009;71 Suppl 2:131-138, http://dx.doi. org/10.1159/000192450.
152. Norton JA, Venzon DJ, Berna MJ, Alexander HR, Fraker DL, Libutti SK, et al. Prospective study of surgery for primary hyperparathyroidism (HPT) in multiple endocrine neoplasia-type 1 and Zollinger-Ellison syndrome: long-term outcome of a more virulent formof HPT. Ann Surg. 2008;247(3):501-510, http://dx.doi.org/10.1097/SLA.0b013e31815efda5.
153. Skogseid B, Rastad J, A° kerström G. Pancreatic endocrine tumors in multiple endocrine neoplasia type I. Doherty GM, Skogseid B, editors. Surgical Endocrinology Philadelphia, PA: Lippincott, Williams & Wilkins; 2001. pp. 511-524.
154. A°kerström G, Sta°lberg P. Surgical management of MEN-1 and-2: State of the art. Surg Clin N Am. 2009;89(5):1047-1068.
155. Triponez F, Goudet P, Dosseh D, Cougard P, Bauters C, Murat A, et al. Is surgery beneficial for MEN1 patients with small (, or = 2 cm), nonfunctioning pancreaticoduodenal endocrine tumor? An analysis of 65 patients from the GTE. World J Surg. 2006;30(5):654-662.
156. Triponez F, Dosseh D, Goudet P, Cougard P, Bauters C, Murat A, et al. Epidemiology data on 108 MEN 1 patients from the GTE with isolated nonfunctioning tumors of the pancreas. Ann Surg. 2006;243(2):265-272, http://dx.doi.org/10.1097/01.sla.0000197715.96762.68.
157. Goudet P, Murat A, Binquet C, Cardot-Bauters C, Costa A, Ruszniewski P, et al. Risk factors and causes of death in MEN1 disease. A GTE (Groupe d'Etude des Tumeurs Endocrines) cohort study among 758 patients. World J Surg. 2010;34(2):249-255.
158. Burgess JR, Greenaway TM, Shepherd JJ. Expression of the MEN-1 gene in a large kindred with multiple endocrine neoplasia type 1. J Intern Med. 1998;243(6):465-470, http://dx.doi.org/10.1046/j.1365-2796.1998. 00275.x.
159. Burgess JR, David R, Parameswaran V, Greenaway TM, Shepherd JJ. The outcome of subtotal parathyroidectomy for the treatment of hyperparathyroidism in multiple endocrine neoplasia type 1. Arch Surg. 1998;133(2):126-129, http://dx.doi.org/10.1001/archsurg.133.2. 126.
160. Wells SA Jr, Stirman JA Jr, Bolman RM 3rd, Gunnells JC. Transplantation of the parathyroid glands. Clinical and experimental results. Surg Clin North Am. 1978;58(2):391-402.
161. Scholten A, Schreinemakers JM, Pieterman CR, Valk GD, Vriens MR, Borel Rinkes IH. Evolution of surgical treatment of primary hyperparathyroidism in patients with multiple endocrine neoplasia type 2A. Endocr Pract. 2011;17(1):7-15, http://dx.doi.org/10.4158/EP10050.OR.
162. Cohen MS, Dilley WG, Wells SA Jr, Moley JF, Doherty GM, Sicard GA, et al. Long-term functionality of cryopreserved parathyroid autografts: a 13-year prospective analysis. Surgery. 2005;138(6):1033-1034, http:// dx.doi.org/10.1016/j.surg.2005.09.029.
163. Bilezikian JP, Potts JT Jr, Fuleihan Gel-H, Kleerekoper M, Neer R, Peacock M, et al. Summary statement from a workshop on asymptomatic primary hyperparathyroidism: a perspective for the 21st century. J Clin Endocrinol Metab. 2002;87(12):5353-5361, http://dx.doi.org/10. 1210/jc.2002-021370.
164. Brandi ML. Parathyroid gland: Hyperparathyroidism in MEN1 syndrome: time to operate? Nat Rev Endocrinol. 2010;6(11):604--605, http://dx.doi.org/10.1038/nrendo.2010.131.
165. Burgess JR, David RB, Greenaway TM, Parameswaran V, Shepherd JJ. Osteoporosis in multiple endocrine neoplasia type 1: severity, clinical significance, relationship to primary hyperparathyroidism and response to parathyroidectomy. Arch Surg. 1999;134(10):1119-1123, http://dx.doi.org/10.1001/archsurg.134.10.1119.
166. Costa MH, Domenice S, Toledo RA, Lourenço DM Jr, Latronico AC, Pinto EM, et al. Glucose-dependent insulinotropic peptide receptor overexpression in adrenocortical hyperplasia in MEN1 syndrome without loss of heterozygosity at the 11q13 locus. Clinics. 2011;66 (4):529-533.
167. Lewis MA, Thompson GB, Young WF Jr. Preoperative assessment of the pancreas in multiple endocrine neoplasia type 1. World J Surg. Surg. 2012;36(6):1375-8131.
168. Zhang L, Smyrk TC, Young WF Jr, Stratakis CA, Carney JA. Gastric stromal tumors in Carney triad are different clinically, pathologically, and behaviorally from sporadic gastric gastrointestinal stromal tumors: findings in 104 cases. Am J Surg Pathol. 2010;34(1):53-64.
169. Lips CJ, Lentjes EG, Höppener JW. The spectrum of carcinoid tumours and carcinoid syndromes. Ann Clin Biochem. 2003;40(Pt 6):612-627, http://dx.doi.org/10.1258/000456303770367207.
170. Ferolla P, Falchetti A, Filosso P, Tomassetti P, Tamburrano G, Avenia N, Daddi G, Puma F, Ribacchi R, Santeusanio F, Angeletti G, Brandi ML. Thymic neuroendocrine carcinoma (carcinoid) in multiple endocrine neoplasia type 1 syndrome: the Italian series. J Clin Endocrinol Metab. 2005;90(5):2603-2609, http://dx.doi.org/10.1210/jc.2004-1155.
171. Burgess JR, Giles N, Shepherd JJ. Malignant thymic carcinoid is not prevented by transcervical thymectomy in multiple endocrine neoplasia type 1. Clin Endocrinol (Oxf). 2001;55 (5):689-693, http://dx.doi.org/10. 1046/j.1365-2265.2001.01348.x.
172. Georgitsi M, Raitila A, Karhu A, van der Luijt RB, Aalfs CM, Sane T, et al. Germline cdkn1b/p27kip1 mutation in multiple endocrine neoplasia. J Clin Endocrinol Metab. 2007;92(8):3321-3325, http://dx. doi.org/10.1210/jc.2006-2843.
173. Agarwal SK, Mateo CM, Marx SJ. Rare germline mutations in cyclindependent kinase inhibitor genes in multiple endocrine neoplasia type 1 and related states. J Clin Endocrinol Metab. 2009;94(5):1826-1834, http://dx.doi.org/10.1210/jc.2008-2083.
174. Daly AF, Rixhon M, Adam C, Dempegioti A, Tichomirova MA, Beckers B. High Prevalence of Pituitary Adenomas: A Cross-Sectional Study in the Province of Liège, Belgium. J Clin Endocrinol Metab. 2006;9 1 (12):4769-4775, http://dx.doi.org/10.1210/jc.2006-1668.
175. De Herder WW. Acromegalic gigantism, physicians and body snatching. Past or present? Pituitary. 2012;15(3): 312-318, http://dx.doi.org/ 10.1007/s11102-012-0389-5.
176. Jorge BH, Agarwal SK, Lando VS, Salvatori R, Barbero RR, Abelin N, et al. Study of the multiple endocrine neoplasia type 1, growth hormone-releasing hormone receptor, Gs alpha, and Gi2 alpha genes in isolated familial acromegaly. J Clin Endocrinol Metab. 2001;86 (2):542-544, http://dx.doi.org/10.1210/jc.86.2.542.
177. Daly AF, Vanbellinghen JF, Khoo SK, Jaffrain-Rea ML, Naves LA, Guitelman MA, et al. Aryl hydrocarbon receptor-interacting protein gene mutations in familial isolated pituitary adenomas: analysis in 73 families. J Clin Endocrinol Metab. 2007;92(5):1891-1896, http://dx.doi. org/10.1210/jc.2006-2513.
178. Rothenbuhler A, Stratakis CA. Clinical and molecular genetics of Carney complex. Best Pract Res Clin Endocrinol Metab. 2010;24(3):389-399, http://dx.doi.org/10.1016/j.beem.2010.03.003.
179. Syro LV, Sundsbak JL, Scheithauer BW, Toledo RA, Camargo M, Heyer CM, et al. Somatotroph pituitary adenoma with acromegaly and autosomal dominant polycystic kidney disease: SSTR5 polymorphism and PKD1 mutation. Pituitary. 2012;15(3):342-349, http://dx.doi.org/ 10.1007/s11102-011-0325-0.
180. Vasilev V, Daly A, Naves L, Zacharieva S, Beckers A. Clinical and genetic aspects of familial isolated pituitary adenomas. Clinics. 2012;67 Suppl 1:37-41, http://dx.doi.org/10.6061/clinics/2012(Sup01)08.
181. Toledo RA, Mendonca BB, Fragoso MC, Soares IC, Almeida MQ, Moraes MB, et al. Isolated familial somatotropinoma: 11q13-loh and gene/ protein expression analysis suggests a possible involvement of aip also in non-pituitary tumorigenesis. Clinics. 2010;65(4):407-415, http://dx.doi. org/10.1590/S1807-59322010000400010.
182. Toledo RA, Lourenço DM Jr, Toledo SP. Familial isolated pituitary adenoma: evidence for genetic heterogeneity. Front Horm Res. 2010; 38:77-86, http://dx.doi.org/10.1159/000318497.
183. Jennings JE, Georgitsi M, Holdaway I, Daly AF, Tichomirowa M, Beckers A, et al. Aggressive pituitary adenomas occurring in young patients in a large Polynesian kindred with a germline R271W mutation in the AIP gene. Eur J Endocrinol. 2009;161(5):799-804
184. Carney JA, Young WF, Stratakis CA. Primary bimorphic adrenocortical disease: cause of hypercortisolism in McCune-Albright syndrome. Am J Surg Pathol. 2011;35(9):1311-1326.
185. McDonald TJ, Driedger AA, Garcia BM, Van Uum SH, Rachinsky I, Chevendra V et al. Familial papillary thyroid carcinoma: a retrospective analysis. J Oncol. 2011;2011:948786.
186. Domingues R, Tomaz RA, Martins C, Nunes C, Bugalho MJ, Cavaco BM. Identification of the first germline HRPT2 whole-gene deletion in a patient with primary hyperparathyroidism. Clin Endocrinol (Oxf). 2012;76(1):33-38., http://dx.doi.org/10.1111/j.1365-2265.2011.04184.x.
187. Mulatero P, Tizzani D, Viola A, Bertello C, Monticone S, Mengozzi G, et al. Prevalence and Characteristics of Familial Hyperaldosteronism. The PATOGEN Study (Primary Aldosteronism in TOrino-GENetic forms). Hypertension. 2011;58(5):797-803, http://dx.doi.org/10.1161/ HYPERTENSIONAHA.111.175083.
188. Funder JW, Carey RM, Fardela C, Gomez-Sanchez C, Mantero F, Stowasser M, et al. Case Detection, Diagnosis, and Treatment of Patients with Primary Aldosteronism: An Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2008;93(9):3 266-281.
189. Eng C, Crossey PA, Mulligan LM, Healey CS, Houghton C, Prowse A, et al. Mutations in the RET proto-oncogene and the von Hippel-Lindau disease tumour suppressor gene in sporadic and syndromic phaeochromocytomas. J Clin Genet. 1995;32(12):934-937.
190. Qin Y, Buddavarapu K, Dahia PL. Pheochromocytomas: from genetic diversity to new paradigms. Horm Metab Res. 2009;41(9):664-671, http://dx.doi.org/10.1055/s-0029-1215590.
191. Dahia PL, Hao K, Rogus J, Colin C, Pujana MA, Ross K, et al. Novel pheochromocytoma susceptibility loci identified by integrative genomics. Cancer Res. 2005;65(21):9651-c-9658, http://dx.doi.org/10.1158/ 0008-5472.CAN-05-1427.
192. Neumann HP, Sullivan M, Winter A, Malinoc A, Hoffmann MM, Boedeker CC, et al. Germline mutations of the TMEM127 gene in patients with paraganglioma of head and neck and extraadrenal abdominal sites. J Clin Endocrinol Metab. 2011;96(8):E1279-282, http://dx.doi.org/10.1210/jc.2011-0114.
193. Melmed S. Pathogenesis of pituitary tumors. Nat Rev Endocrinol. 2011;7(5):257-266, http://dx.doi.org/10.1038/nrendo.2011.40.
194. Falchetti A, Marini F, Luzi E, Giusti F, Cavalli L, Cavalli T, et al. Multiple endocrine neoplasia type 1 (MEN1): not only inherited endocrine tumors. Gen Med. 2009;11(12):825-835, http://dx.doi.org/ 10.1097/GIM.0b013e3181be5c97.
195. Beckers A, Aaltonen LA, Daly AF, Karhu A. Familial isolated pituitary adenomas (FIPA) and pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protrin (AIP) gene. Endocr Rev. 2013;34(2):239-277, http://dx.doi.org/10.1210/er. 2012-1013.
196. Machens A, Dralle H. Multiple endocrine neoplasia type 2 and the RET protooncogene: from bedside to bench to bedside. Mol Cell Endocrinol. 2006,9;247(1-2):34-40, http://dx.doi.org/10.1016/j.mce.2005.10.028.
197. Jaffrain-Rea ML, Angelini M, Gargano D, Tichomirowa MA, Daly AF, Vanbellinghen JF, et al. Expression of aryl hydrocarbon receptor (AHR) and AHR-interacting protein in pituitary adenomas: pathological and clinical implications. Endocr Relat Cancer. 2009;16(3):1029-1043, http:// dx.doi.org/10.1677/ERC-09-0094.
198. Romei C, Pardi E, Cetani F, Elisei R. Genetic and Clinical Features of Multiple Endocrine Neoplasia Types 1 and 2. J Oncol. 2012;2012:705036.