多发性内分泌腺瘤综合征

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;97:2990-3011.

• 全文
• 摘要

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

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;98:3149-3164.

• 摘要

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;318:478-484.

• 摘要

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;6:1169-1175.

• 全文
• 摘要

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.

• 摘要

Eng C, Clayton D, Schuffenecker I, et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA. 1996;276:1575-1579.

• 摘要

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;40:329-337.

• 摘要

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

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;26:89-92.

• 摘要

1.  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;97:2990-3011.

• 全文
• 摘要

2.  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

3.  Vidal A, Iglesias MJ, Fernandez B, et al. Cutaneous lesions associated to multiple endocrine neoplasia syndrome type 1. J Eur Acad Dermatol Venereol. 2008;22:835-838.

• 摘要

4.  Machens A, Schaaf L, Karges W, et al. Age-related penetrance of endocrine tumours in multiple endocrine neoplasia type 1 (MEN1): a multicentre study of 258 gene carriers. Clin Endocrinol (Oxf). 2007;67:613-622.

• 摘要

5.  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;12:5440-5446.

• 全文
• 摘要

6.  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;37:147-150.

• 摘要

7.  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;1:603-607.

• 摘要

8.  Carney JA, Go VL, Sizemore GW, et al. Alimentary-tract ganglioneuromatosis. A major component of the syndrome of multiple endocrine neoplasia, type 2b. N Engl J Med. 1976;295:1287-1291.

• 摘要

9.  Bartsch DK, Langer P, Rothmund M. Surgical aspects of gastrinoma in multiple endocrine neoplasia type 1. Wien Klin Wochenschr. 2007;119:602-608.

• 摘要

10.  Skogseid B, Eriksson B, Lundqvist G, et al. Multiple endocrine neoplasia type 1: a 10-year prospective screening study in four kindreds. J Clin Endocrinol Metab. 1991;73:281-287.

• 摘要

11.  Vasen HF, Lamers CB, Lips CJ. Screening for the multiple endocrine neoplasia syndrome type I. A study of 11 kindreds in The Netherlands. Arch Intern Med. 1989;149:2717-2722.

• 摘要

12.  Lourenco DM Jr, Toledo RA, Mackowiak II, et al. Multiple endocrine neoplasia type 1 in Brazil: MEN1 founding mutation, clinical features, and bone mineral density profile. Eur J Endocrinol. 2008;159:259-274.

• 摘要

13.  Carty SE, Helm AK, Amico JA, et al. The variable penetrance and spectrum of manifestations of multiple endocrine neoplasia type 1. Surgery. 1998;124:1106-1114.

• 摘要

14.  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;99:3325-3333.

• 摘要

15.  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;98:3149-3164.

• 摘要

16.  Petri BJ, van Eijck CH, de Herder WW, et al. Phaeochromocytomas and sympathetic paragangliomas. Br J Surg. 2009;96:1381-1392.

• 全文
• 摘要

17.  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;318:478-484.

• 摘要

18.  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;44:208-215.

• 全文
• 摘要

19.  Ponder BA, Ponder MA, Coffey R, et al. Risk estimation and screening in families of patients with medullary thyroid carcinoma. Lancet. 1988;1:397-401.

• 摘要

20.  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;83:487-491.

• 全文
• 摘要

21.  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;83:2621-2626.

• 全文
• 摘要

22.  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;6:1169-1175.

• 全文
• 摘要

23.  Bassett JH, Forbes SA, Pannett AA, et al. Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet. 1998;62:232-244.

• 全文
• 摘要

24.  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;13:175-185.

• 摘要

25.  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;85:116-123.

• 全文
• 摘要

26.  Vierimaa O, Ebeling TM, Kytola S, et al. Multiple endocrine neoplasia type 1 in Northern Finland: clinical features and genotype phenotype correlation. Eur J Endocrinol. 2007;157:285-294.

• 全文
• 摘要

27.  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.

• 摘要

28.  Eng C, Clayton D, Schuffenecker I, et al. The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis. JAMA. 1996;276:1575-1579.

• 摘要

29.  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;6:70-74.

• 摘要

30.  Hansford JR, Mulligan LM. Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis. J Med Genet. 2000;37:817-827.

• 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;95:1630-1634.

• 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;100:10770-10775.

• 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;1014:189-198.

• 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;99:E2387-E2391.

• 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;15:1613-1619.

• 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;91:1579-1583.

• 全文
• 摘要

37.  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;75:76-81.

• 摘要

38.  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;152:1250-1252.

• 摘要

39.  Brauckhoff M, Gimm O, Brauckhoff K, et al. Repeat adrenocortical-sparing adrenalectomy for recurrent hereditary pheochromocytoma. Surg Today. 2004;34:251-255.

• 摘要

40.  Darling TN, Skarulis MC, Steinberg SM, et al. Multiple facial angiofibromas and collagenomas in patients with multiple endocrine neoplasia type 1. Arch Dermatol. 1997;133:853-857.

• 摘要

41.  Peppa M, Boutati E, Kamakari S, et al. Novel germline mutations of the MEN1 gene in Greek families with multiple endocrine neoplasia type 1. Clin Endocrinol (Oxf). 2009;70:75-81.

• 摘要

42.  Concolino P, Rossodivita A, Carrozza C, et al. A novel MEN1 frameshift germline mutation in two Italian monozygotic twins. Clin Chem Lab Med. 2008;46:824-826.

• 摘要

43.  Neumann HP, Bausch B, McWhinney SR, et al. Germ-line mutations in nonsyndromic pheochromocytoma. N Engl J Med. 2002;346:1459-1466.

• 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;91:295-301.

• 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;37:484-493.

• 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;95:2800-2810.

• 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;92:1508-1512.

• 摘要

48.  Chen HM, Fang JY. Genetics of the hamartomatous polyposis syndromes: a molecular review. Int J Colorectal Dis. 2009;24:865-874.

• 摘要

49.  Gharib H, Papini E, Valcavi R, et al. American Association of Clinical Endocrinologists and Associazione Medici Endocrinologi medical guidelines for clinical practice for the diagnosis and management of thyroid nodules. Endocr Pract. 2006;12:63-102.

• 摘要

50.  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;154:787-803.

• 全文
• 摘要

51.  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;90:6077-6084.

• 全文
• 摘要

52.  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;40:329-337.

• 摘要

53.  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;85:295-330.

• 摘要

54.  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;85:331-364.

• 摘要

55.  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

56.  Carpten JD, Robbins CM, Villablanca A, et al. HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet. 2002;32:676-680.

• 摘要

57.  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;60:5553-5557.

• 全文
• 摘要

58.  Beckers A, Daly AF. The clinical, pathological, and genetic features of familial isolated pituitary adenomas. Eur J Endocrinol. 2007;157:371-382.

• 全文
• 摘要

59.  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

60.  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;26:89-92.

• 摘要

61.  Skogseid B, Oberg K, Eriksson B, et al. Surgery for asymptomatic pancreatic lesion in multiple endocrine neoplasia type I. World J Surg. 1996;20:872-876.

• 摘要

62.  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;156:1326-1334.

• 摘要

63.  Falchetti A, Cilotti A, Vaggelli L, et al. A patient with MEN1-associated hyperparathyroidism, responsive to cinacalcet. Nat Clin Pract Endocrinol Metab. 2008;4:351-357.

• 全文
• 摘要

64.  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;38:389-394.

• 摘要

65.  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

66.  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

67.  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;247:501-510.

• 摘要

68.  Norton JA, Fraker DL, Alexander HR, et al. Surgery to cure the Zollinger-Ellison syndrome. N Engl J Med. 1999;341:635-644.

• 全文
• 摘要

69.  Tonelli F. How to follow up and when to operate asymptomatic pancreatic neuroendocrine tumors in multiple endocrine neoplasia type 1? J Clin Gastroenterol. 2014;48:387-389.

• 全文
• 摘要

70.  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;40:263-271.

• 摘要

71.  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;80:850-855.

• 摘要

72.  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;17:7-15.

• 摘要

73.  Skinner MA, Moley JA, Dilley WG, et al. Prophylactic thyroidectomy in multiple endocrine neoplasia type 2A. N Engl J Med. 2005;353:1105-1113.

• 全文
• 摘要

74.  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;30:108-112.

• 全文
• 摘要

75.  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;29:857-863.

• 摘要

76.  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;15:648-655.

• 摘要

77.  American Thyroid Association Guidelines Task Force, Kloos RT, Eng C, Evans DB, et al. Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid. 2009;19:565-612. [Erratum in: Thyroid. 2009;19:1295.]

• 摘要

78.  Lee JE, Curley SA, Gagel RF, et al. Cortical-sparing adrenalectomy for patients with bilateral pheochromocytoma. Surgery. 1996;120:1064-1071.

• 摘要

79.  Yip L, Lee JE, Shapiro SE, et al. Surgical management of hereditary pheochromocytoma. J Am Coll Surg. 2004;198:525-535.

• 摘要

80.  Lodish MB, Stratakis CA. RET oncogene in MEN2, MEN2B, MTC and other forms of thyroid cancer. Expert Rev Anticancer Ther. 2008;8:625-632.

• 摘要

81.  Elaraj DM, Skarulis MC, Libutti SK, et al. Results of initial operation for hyperparathyroidism in patients with multiple endocrine neoplasia type 1. Surgery. 2003;134:858-865.

• 摘要

82.  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;246:815-821.

• 摘要

83.  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;70:575-581.

• 摘要