多发性内分泌腺瘤综合征

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Wells SA Jr, Pacini F, Robinson BG, et al. Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update. J Clin Endocrinol Metab. 2013 Aug;98(8):3149–64.全文  摘要

Wells SA Jr, Asa SL, Dralle H, et al. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Thyroid. 2015 Jun;25(6):567-610.全文  摘要

Al-Salameh A, Cadiot G, Calender A, et al. Clinical aspects of multiple endocrine neoplasia type 1. Nat Rev Endocrinol. 2021 Apr;17(4):207-24.全文  摘要

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2. Schernthaner-Reiter MH, Trivellin G, Stratakis CA. MEN1, MEN4, and Carney Complex: Pathology and molecular genetics. Neuroendocrinology. 2016;103(1):18-31.全文  摘要

3. Thakker RV, Newey PJ, Walls GV, et al; Endocrine Society. Clinical practice guidelines for multiple endocrine neoplasia type 1 (MEN1). J Clin Endocrinol Metab. 2012 Sep;97(9):2990-3011.全文  摘要

4. Vidal A, Iglesias MJ, Fernandez B, et al. Cutaneous lesions associated to multiple endocrine neoplasia syndrome type 1. J Eur Acad Dermatol Venereol. 2008 Jul;22(7):835-8. 摘要

5. Wells SA Jr, Pacini F, Robinson BG, et al. Multiple endocrine neoplasia type 2 and familial medullary thyroid carcinoma: an update. J Clin Endocrinol Metab. 2013 Aug;98(8):3149–64.全文  摘要

6. Castinetti F, Waguespack SG, Machens A, et al. Natural history, treatment, and long-term follow up of patients with multiple endocrine neoplasia type 2B: an international, multicentre, retrospective study. Lancet Diabetes Endocrinol. 2019 Mar;7(3):213-20.全文  摘要

7. Wells SA Jr, Asa SL, Dralle H, et al. Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma. Thyroid. 2015 Jun;25(6):567-610.全文  摘要

8. Al-Salameh A, Cadiot G, Calender A, et al. Clinical aspects of multiple endocrine neoplasia type 1. Nat Rev Endocrinol. 2021 Apr;17(4):207-24.全文  摘要

9. de Laat JM, Pieterman CR, van den Broek MF, et al. Natural course and survival of neuroendocrine tumors of thymus and lung in MEN1 patients. J Clin Endocrinol Metab. 2014 Sep;99(9):3325-33. 摘要

10. Kamilaris CDC, Stratakis CA. Multiple endocrine neoplasia Type 1 (MEN1): An update and the significance of early genetic and clinical diagnosis. Front Endocrinol (Lausanne). 2019 Jun 11;10:339.全文  摘要

11. Petri BJ, van Eijck CH, de Herder WW, et al. Phaeochromocytomas and sympathetic paragangliomas. Br J Surg. 2009 Dec;96(12):1381-92.全文  摘要

12. Gagel RF, Tashjian AH Jr, Cummings T, et al. The clinical outcome of prospective screening for multiple endocrine neoplasia type 2a. An 18-year experience. N Engl J Med. 1988 Feb 25;318(8):478-84. 摘要

13. Easton DF, Ponder MA, Cummings T, et al. The clinical and screening age-at-onset distribution for the MEN-2 syndrome. Am J Hum Genet. 1989 Feb;44(2):208-15.全文  摘要

14. Ponder BA, Ponder MA, Coffey R, et al. Risk estimation and screening in families of patients with medullary thyroid carcinoma. Lancet. 1988 Feb 20;1(8582):397-401. 摘要

15. Schuffenecker I, Virally-Monod M, Brohet R, et al. 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. 1998 Feb;83(2):487-91.全文  摘要

16. Donovan DT, Levy ML, Furst EJ, et al. Familial cutaneous lichen amyloidosis in association with multiple endocrine neoplasia type 2A: a new variant. Henry Ford Hosp Med J. 1989;37(3-4):147-50. 摘要

17. Verdy M, Weber AM, Roy CC, et al. Hirschsprung's disease in a family with multiple endocrine neoplasia type 2. J Pediatr Gastroenterol Nutr.1982;1(4):603-7. 摘要

18. Castinetti F, Moley J, Mulligan L, et al. A comprehensive review on MEN2B. Endocr Relat Cancer. 2018 Feb;25(2):T29-T39.全文  摘要

19. Frederiksen A, Rossing M, Hermann P, et al. Clinical features of multiple endocrine neoplasia Type 4: Novel pathogenic variant and review of published cases. J Clin Endocrinol Metab. 2019 Sep 1;104(9):3637-46.全文  摘要

20. 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. J Clin Endocrinol Metab. 1998 Aug;83(8):2621-6.全文  摘要

21. Agarwal SK, Kester MB, Debelenko LV, et al. Germline mutations of the MEN1 gene in familial multiple endocrine neoplasia type 1 and related states. Hum Mol Genet. 1997 Jul;6(7):1169-75.全文  摘要

22. Bassett JH, Forbes SA, Pannett AA, et al. Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet. 1998 Feb;62(2):232-44.全文  摘要

23. Mutch MG, Dilley WG, Sanjurjo F, et al. Germline mutations in the multiple endocrine neoplasia type 1 gene: evidence for frequent splicing defects. Hum Mutat. 1999;13(3):175-85. 摘要

24. Goebel SU, Heppner C, Burns AL, et al. Genotype/phenotype correlation of multiple endocrine neoplasia type 1 gene mutations in sporadic gastrinomas. J Clin Endocrinol Metab. 2000 Jan;85(1):116-23.全文  摘要

25. Vierimaa O, Ebeling TM, Kytölä S, et al. Multiple endocrine neoplasia type 1 in Northern Finland; clinical features and genotype phenotype correlation. Eur J Endocrinol. 2007 Sep;157(3):285-94.全文  摘要

26. Mulligan LM, Kwok JB, Healey CS, et al. Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A. Nature. 1993 Jun 3;363(6428):458-60. 摘要

27. 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 Nov 20;276(19):1575-9. 摘要

28. Mulligan LM, Eng C, Healey CS, et al. Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC. Nat Genet. 1994 Jan;6(1):70-4. 摘要

29. Hansford JR, Mulligan LM. Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis. J Med Genet. 2000 Nov;37(11):817-27.全文  摘要

30. Anlauf M, Garbrecht N, Henopp T, et al. Sporadic versus hereditary gastrinomas of the duodenum and pancreas: distinct clinico-pathological and epidemiological features. World J Gastroenterol. 2006 Sep 14;12(34):5440-6.全文  摘要

31. Guru SC, Goldsmith PK, Burns AL, et al. Menin, the product of the MEN1 gene, is a nuclear protein. Proc Natl Acad Sci U S A. 1998 Feb 17;95(4);1630-34.全文  摘要

32. Agarwal SK, Novotny EA, Crabtree JS, et al. Transcription factor JunD, deprived of menin, switches from growth suppressor to growth promoter. Proc Natl Acad Sci U S A. 2003 Sept 16;10(19):10770-5.全文  摘要

33. Agarwal SK, Lee Burns A, Sukhodolets KE, et al. Molecular pathology of the MEN1 gene. Ann N Y Acad Sci. 2004 Apr;1014:189-98. 摘要

34. Bartsch DK, Slater EP, Albers M, et al. Higher risk of aggressive pancreatic neuroendocrine tumors in MEN1 patients with MEN1 mutations affecting the CHES1 interacting MENIN domain. J Clin Endocrinol Metab. 2014 Nov;99(11):E2387-91. 摘要

35. Asai N, Iwashita T, Matsuyama M, et al. Mechanism of activation of the ret proto-oncogene by multiple endocrine neoplasia 2A mutations. Mol Cell Biol. 1995 Mar;15(3):1613-9.全文  摘要

36. Carlson KM, Dou S, Chi D, et al. Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B. Proc Natl Acad Sci U S A. 1994 Feb 15;91(4):1579-83.全文  摘要

37. 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.全文  摘要

38. Skogseid B, Larsson C, Lindgren PG, et al. Clinical and genetic features of adrenocortical lesions in multiple endocrine neoplasia type 1. J Clin Endocrinol Metab. 1992 Jul;75(1):76-81. 摘要

39. Vasen HF, van der Feltz M, Raue F, et al. The natural course of multiple endocrine neoplasia type IIb. A study of 18 cases. Arch Intern Med. 1992 Jun;152(6):1250-2. 摘要

40. Brauckhoff M, Gimm O, Brauckhoff K, et al. Repeat adrenocortical-sparing adrenalectomy for recurrent hereditary pheochromocytoma. Surg Today. 2004;34(3):251-5. 摘要

41. Darling TN, Skarulis MC, Steinberg SM, et al. Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. Arch Dermatol. 1997 Jul;133(7):853-7. 摘要

42. Neumann HP, Bausch B, McWhinney SR, et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med. 2002 May 9;346(19):1459-66.全文  摘要

43. Niederle B, Selberherr A, Bartsch DK, et al. Multiple endocrine neoplasia Type 1 and the pancreas: diagnosis and treatment of functioning and non-functioning pancreatic and duodenal neuroendocrine neoplasia within the MEN1 syndrome - An international consensus statement. Neuroendocrinology. 2021;111(7):609-30.全文  摘要

44. Shi W, Johnston CF, Buchanan KD, et al. Localization of neuroendocrine tumours with [111In] DTPA-octreotide scintigraphy (Octreoscan): a comparative study with CT and MR imaging. QJM. 1998 Apr;91(4):295-301.全文  摘要

45. Luster M, Karges W, Zeich K, et al. Clinical value of 18F-fluorodihydroxypenylalanine positron emission tomography/computed CT (18F-DOPA PET/CT) for detecting phaeochromocytoma. Eur J Nucl Med Mol Imaging. 2010 Mar;37(3):484-93. 摘要

46. Fottner C, Helisch A, Anlauf M, et al. 6-18F-fluoro-L-dihydroxyphenylalanine positron emission tomography is superior to 123I-metaiodobenzyl-guanidine scintigraphy in the detection of extraadrenal and hereditary pheochromocytomas and paragangliomas: correlation with vesicular monoamine transporter expression. J Clin Endocrinol Metab. 2010 Jun;95(6):2800-10. 摘要

47. Hellman P, Hennings J, Akerstrom G, et al. Endoscopic ultrasonography for evaluation of pancreatic tumours in multiple endocrine neoplasia type 1. Br J Surg. 2005 Dec;92(12):1508-12. 摘要

48. Chen HM, Fang JY. Genetics of the hamartomatous polyposis syndromes: a molecular review. Int J Colorectal Dis. 2009 Aug;24(8):865-74. 摘要

49. Haugen BR, Alexander EK, Bible KC, et al. 2015 American Thyroid Association management guidelines for adult patients with thyroid nodules and differentiated thyroid cancer: The American Thyroid Association guidelines task force on thyroid nodules and differentiated thyroid cancer. Thyroid. 2016 Jan;26(1):1-133.全文  摘要

50. Gharib H, Papini E, Garber JR, et al. American Association of Clinical Endocrinologists, American College of Endocrinology, and Associazone Medici Endocrinologi medical guidelines for clinical practice for the diagnosis and management of thyroid nodules--2016 update. Endocr Pract. 2016 May;22(5):622-39.全文  摘要

51. Pacini F, Schlumberger M, Dralle H, et al. European consensus for the management of patients with differentiated thyroid carcinoma of the follicular epithelium. Eur J Endocrinol. 2006 Jun;154(6):787-803.全文  摘要

52. Barbet J, Campion L, Kraeber-Bodéré J, et al. Prognostic impact of serum calcitonin and carcinoembryonic antigen doubling-times in patients with medullary thyroid carcinoma. J Clin Endocrinol Metab. 2005 Nov;90(11):6077-84.全文  摘要

53. Eisenhofer G, Siegert G, Kotzerke J, et al. Current progress and future challenges in the biochemical diagnosis and treatment of pheochromocytomas and paragangliomas. Horm Metab Res. 2008 May;40(5):329-37. 摘要

54. Berna MJ, Hoffmann KM, Serrano J, et al. Serum gastrin in Zollinger-Ellison syndrome: I. Prospective study of fasting serum gastrin in 309 patients from the National Institutes of Health and comparison with 2229 cases from the literature. Medicine (Baltimore). 2006 Nov;85(6):295-330. 摘要

55. Berna MJ, Hoffmann KM, Long SH, et al. Serum gastrin in Zollinger-Ellison syndrome: II. Prospective study of gastrin provocative testing in 293 patients from the National Institutes of Health and comparison with 537 cases from the literature. Evaluation of diagnostic criteria, proposal of new criteria, and correlations with clinical and tumoral features. Medicine (Baltimore). 2006 Nov;85(6):331-64. 摘要

56. Nieman LK, Biller BM, Findling JW, et al. The diagnosis of Cushing's syndrome: an Endocrine Society Clinical Practice Guideline. J Clin Endocrinol Metab. 2008 May;93(5):1526-40.全文  摘要

57. Sadowski SM, Millo C, Cottle-Delisle C, et al. Results of (68)Gallium-DOTATATE PET/CT scanning in patients with multiple endocrine neoplasia Type 1. J Am Coll Surg. 2015 Aug;221(2):509-17.全文  摘要

58. Carpten JD, Robbins CM, Villablanca A, et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet. 2002 Dec;32(4):676-80. 摘要

59. Uchino S, Noguchi S, Sato M, et al. Screening of the Men1 gene and discovery of germ-line and somatic mutations in apparently sporadic parathyroid tumors. Cancer Res. 2000 Oct 1;60(19):5553-7.全文  摘要

60. Beckers A, Daly AF. The clinical, pathological, and genetic features of familial isolated pituitary adenomas. Eur J Endocrinol. 2007 Oct;157(4):371-82.全文  摘要

61. 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 Sep;86(9):4041-6.全文  摘要

62. Kirschner LS, Carney JA, Pack SD, et al. Mutations of the gene encoding the protein kinase A type I-alpha regulatory subunit in patients with the Carney complex. Nat Genet. 2000 Sep;26(1):89-92. 摘要

63. Skogseid B, Oberg K, Eriksson B, et al. Surgery for asymptomatic pancreatic lesion in multiple endocrine neoplasia type I. World J Surg. 1996 Sep;20(7):872-6. 摘要

64. National Institute for Health and Care Excellence. Hyperparathyroidism (primary): diagnosis, assessment and initial management. May 2019 [internet publication].全文

65. Lairmore TC, Govednik CM, Quinn CE, et al. A randomized, prospective trial of operative treatments for hyperparathyroidism in patients with multiple endocrine neoplasia type 1. Surgery. 2014 Dec;156(6):1326-34. 摘要

66. Falchetti A, Cilotti A, Vaggelli L, et al. A patient with MEN1-associated hyperparathyroidism, responsive to cinacalcet. Nat Clin Pract Endocrinol Metab. 2008 Jun;4(6):351-7.全文  摘要

67. Del Prete M, Marotta V, Ramundo V, et al. Impact of cinacalcet hydrochloride in clinical management of primary hyperparathyroidism in multiple endocrine neoplasia type 1. Minerva Endocrinol. 2013 Dec;38(4):389-94. 摘要

68. Moyes VJ, Monson JP, Chew SL, et al. Clinical use of cinacalcet in MEN1 hyperparathyroidism. Int J Endocrinol. 2010;2010:906163.全文  摘要

69. Giusti F, Cianferotti L, Gronchi G, et al. Cinacalcet therapy in patients affected by primary hyperparathyroidism associated to Multiple Endocrine Neoplasia Syndrome type 1 (MEN1). Endocrine. 2016 Jun;52(3):495-506.全文  摘要

70. Norton JA, Alexander HR, Fraker DL, et al. Comparison of surgical results in patients with advanced and limited disease with multiple endocrine neoplasia type 1 and Zollinger-Ellison syndrome. Ann Surg. 2001;234:495-506.全文  摘要

71. Norton JA, Venzon DJ, Berna MJ, 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 form of HPT. Ann Surg. 2008 Mar;247(3):501-10. 摘要

72. Norton JA, Fraker DL, Alexander HR, et al. Surgery to cure the Zollinger-Ellison syndrome. N Engl J Med. 1999 Aug 26;341(9):635-44.全文  摘要

73. Tonelli F. How to follow up and when to operate asymptomatic pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1? J Clin Gastroenterol. 2014 May/June;48(5):387-9.全文  摘要

74. Pasquali D, Rossi V, Conzo G, et al. Effects of somatostatin analog SOM230 on cell proliferation, apoptosis, and catecholamine levels in cultured pheochromocytoma cells. J Mol Endocrinol. 2008 Jun;40(6):263-71. 摘要

75. Ramundo V, Del Prete M, Marotta V, et al; Multidisciplinary Group for Neuroendocrine Tumors of Naples. Impact of long-acting octreotide in patients with early-stage MEN1-related duodeno-pancreatic neuroendocrine tumours. Clin Endocrinol (Oxf). 2014 Jun;80(6):850-5. 摘要

76. Scholten A, Schreinemakers JM, Pieterman CR, et al. Evolution of surgical treatment of primary hyperparathyroidism in patients with multiple endocrine neoplasia type 2A. Endocr Pract. 2011 Feb;17(1):7-15. 摘要

77. Skinner MA, Moley JA, Dilley WG, et al. Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. N Engl J Med. 2005 Sep 15;353(11):1105-13.全文  摘要

78. Greenblatt DY, Elson D, Mack E, et al. Initial lymph node dissection increases cure rates in patients with medullary thyroid cancer. Asian J Surg. 2007 Apr;30(2):108-12.全文  摘要

79. de Groot JW, Links TP, Sluiter WJ, et al. Locoregional control in patients with palpable medullary thyroid cancer: results of standardized compartment-oriented surgery. Head Neck. 2007 Sep;29(9):857-63. 摘要

80. Wells SA Jr. Advances in the management of MEN2: from improved surgical and medical treatment to novel kinase inhibitors. Endocr Relat Cancer. 2018 Feb;25(2):T1-T13.全文  摘要

81. Castinetti F, Qi XP, Walz MK, et al. Outcomes of adrenal-sparing surgery or total adrenalectomy in phaeochromocytoma associated with multiple endocrine neoplasia type 2: an international retrospective population-based study. Lancet Oncol. 2014 May;15(6):648-55. 摘要

82. Rinke A, Müller HH, Schade-Brittinger C, et al. Placebo-controlled, double-blind, prospective, randomized study on the effect of octreotide LAR in the control of tumor growth in patients with metastatic neuroendocrine midgut tumors: a report from the PROMID Study Group. J Clin Oncol. 2009 Oct 1;27(28):4656-63.全文  摘要

83. Caplin ME, Pavel M, Ćwikła JB, et al. Anti-tumour effects of lanreotide for pancreatic and intestinal neuroendocrine tumours: the CLARINET open-label extension study. Endocr Relat Cancer. 2016 Mar;23(3):191-9.全文  摘要

84. Lee JE, Curley SA, Gagel RF, et al. Cortical-sparing adrenalectomy for patients with bilateral pheochromocytoma. Surgery. 1996 Dec;120(6):1064-71. 摘要

85. Yip L, Lee JE, Shapiro SE, et al. Surgical management of hereditary pheochromocytoma. J Am Coll Surg. 2004 Apr;198(4):525-35. 摘要

86. Lodish MB, Stratakis CA. RET oncogene in MEN2, MEN2B, MTC and other forms of thyroid cancer. Expert Rev Anticancer Ther. 2008 Apr;8(4):625-32. 摘要

87. Elaraj DM, Skarulis MC, Libutti SK, et al. Results of initial operation for hyperparathyroidism in patients with multiple endocrine neoplasia type 1. Surgery. 2003 Dec;134(6):858-64. 摘要

88. Cupisti K, Wolf A, Raffel A, et al. Long-term clinical and biochemical follow-up in medullary thyroid carcinoma: a single institution's experience over 20 years. Ann Surg. 2007 Nov;246(5):815-21. 摘要

89. Raue F, Dralle H, Machens A, et al. Long-term survivorship in multiple endocrine neoplasia Type 2B diagnosed before and in the new millennium. J Clin Endocrinol Metab. 2018 Jan 1;103(1):235-43.全文  摘要

90. Pieterman CR, Schreinemakers JM, Koppeschaar HP, et al. Multiple endocrine neoplasia type 1 (MEN1): its manifestations and effect of genetic screening on clinical outcome. Clin Endocrinol (Oxf). 2009 Apr;70(4):575-81. 摘要