Role of multiple endocrine neoplasia type 1 mutational analysis in clinical practice

Endocrine Practice

Volumn 17, Issue SUPPL. 3, 2011, Pages 8-17

  Newey, Paul J ^a   Thakker, Rajesh V ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; CHILD; CHROMOSOME 11Q; CLINICAL ARTICLE; CLINICAL PRACTICE; GENE MUTATION; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; MULTIPLE ENDOCRINE NEOPLASIA; REVIEW; SCHOOL CHILD;

EID: 84860405754     PISSN: 1530891X     EISSN: 19342403     Source Type: Journal    
DOI: 10.4158/EP10379.RA     Document Type: Review

References (39)

1. Wermer P. Genetic aspects of adenomatosis of endocrine glands. Am J Med. 1954;16:363-371.
2. Thakker RV. Multiple endocrine neoplasia type 1. In: DeGroot LJ, Jameson JL, eds. Endocrinology. 6th ed. Philadelphia, PA: Elsevier, 2010: 2719-2741.
3. 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. (Pubitemid 28110764)
4. Benson L, Ljunghall S, Akerström G, Oberg K. Hyperparathyroidism presenting as the frst lesion in multiple endocrine neoplasia type 1. Am J Med. 1987;82:731-737.
5. Trump D, Farren B, Wooding C, et al. Clinical studies of multiple endocrine neoplasia type 1 (MEN1). QJM. 1996;89:653-669. (Pubitemid 26319017)
6. Marx S, Spiegel AM, Skarulis MC, Doppman JL, Collins FS, Liotta LA. Multiple endocrine neoplasia type 1: clinical and genetic topics. Ann Intern Med. 1998;129:484-494. (Pubitemid 28428085)
7. 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. (Pubitemid 33152604)
8. Lemos MC, Thakker RV. Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the frst decade following identifcation of the gene. Hum Mutat. 2008;29:22-32.
9. Calender A, Giraud S, Lenoir GM, Cougard P, Chanson P, Proye C. Hereditary multiple endocrine neo-plasia: new genetic data and clinical applications in type 1 multiple endocrine neoplasia [in French]. Presse Med. 1995;24:542-546.
10. Geerdink EA, Van der Luijt RB, Lips CJ. Do patients with multiple endocrine neoplasia syndrome type 1 beneft from periodical screening? Eur J Endocrinol. 2003;149: 577-582. (Pubitemid 38054703)
11. Doherty GM, Olson JA, Frisella MM, Lairmore TC, Wells SA Jr, Norton JA. Lethality of multiple endocrine neoplasia type I [with discussion]. World J Surg. 1998;22: 581-587. (Pubitemid 28215436)
12. Dean PG, van Heerden JA, Farley DR, et al. Are patients with multiple endocrine neoplasia type I prone to premature death? World J Surg. 2000;24:1437-1441.
13. Goudet P, Murat A, Binquet C, 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;34:249-255.
14. Turner JJ, Christie PT, Pearce SH, Turnpenny PD, Thakker RV. Diagnostic challenges due to phenocopies: lessons from multiple endocrine neoplasia type 1 (MEN1). Hum Mutat. 2010;31:E1089-E1101.
15. Chandrasekharappa SC, Guru SC, Manickam P, et al. Positional cloning of the gene for multiple endocrine neo-plasia-type 1. Science. 1997;276:404-407.
16. Lemmens I, Van de Ven WJ, Kas K, et al (European Consortium on MEN1). Identifcation of the multiple endocrine neoplasia type 1 (MEN1) gene. Hum Mol Genet. 1997;6:1177-1183. (Pubitemid 27308405)
17. Thakker RV, Bouloux P, Wooding C, et al. Association of parathyroid tumors in multiple endocrine neoplasia type 1 with loss of alleles on chromosome 11. N Engl J Med. 1989;321:218-224. (Pubitemid 19187162)
18. Pannett AA, Thakker RV. Somatic mutations in MEN type 1 tumors, consistent with the Knudson "two-hit" hypothesis. J Clin Endocrinol Metab. 2001;86:4371-4374. (Pubitemid 32848561)
19. Guru SC, Goldsmith PK, Burns AL, et al. Menin, the product of the MEN1 gene, is a nuclear protein. Proc Natl Acad Sci USA. 1998;95:1630-1634. (Pubitemid 28103444)
20. Agarwal SK, Guru SC, Heppner C, et al. Menin interacts with the AP1 transcription factor JunD and represses JunD-activated transcription. Cell. 1999;96:143-152. (Pubitemid 29044161)
21. Agarwal SK, Kennedy PA, Scacheri PC, et al. Menin molecular interactions: insights into normal functions and tumorigenesis. Horm Metab Res. 2005;37:369-374. (Pubitemid 41008771)
22. Balogh K, Rácz K, Patócs A, Hunyady L. Menin and its interacting proteins: elucidation of menin function. Trends Endocrinol Metab. 2006;17:357-364. (Pubitemid 44584731)
23. Adami S, Marcocci C, Gatti D. Epidemiology of primary hyperparathyroidism in Europe. J Bone Miner Res. 2002;17(suppl 2):N18-N23. (Pubitemid 35222308)
24. Daly AF, Rixhon M, Adam C, Dempegioti A, Tichomirowa MA, Beckers A. High prevalence of pituitary adenomas: a cross-sectional study in the province of Liege, Belgium. J Clin Endocrinol Metab. 2006;91:4769-4775. (Pubitemid 44917305)
25. Fernandez A, Karavitaki N, Wass JA. Prevalence of pituitary adenomas: a community-based, cross-sectional study in Banbury (Oxfordshire, UK). Clin Endocrinol (Oxf). 2010;72:377-382.
26. Metz DC, Jensen RT. Gastrointestinal neuroendocrine tumors: pancreatic endocrine tumors. Gastroenterology. 2008;135:1469-1492.
27. Wermers RA, Khosla S, Atkinson EJ, et al. Incidence of primary hyperparathyroidism in Rochester, Minnesota, 1993-2001: an update on the changing epidemiology of the disease. J Bone Miner Res. 2006;21:171-177. (Pubitemid 43023239)
28. Burgess JR, Nord B, David R, et al. Phenotype and phe-nocopy: the relationship between genotype and clinical phenotype in a single large family with multiple endocrine neoplasia type 1 (MEN 1). Clin Endocrinol (Oxf). 2000; 53:205-211. (Pubitemid 30643455)
29. Newey PJ, Bowl MR, Cranston T, Thakker RV. Cell division cycle protein 73 homolog (CDC73) mutations in the hyperparathyroidism-jaw tumor syndrome (HPT-JT) and parathyroid tumors. Hum Mutat. 2010;31:295-307.
30. Langer P, Wild A, Hall A, Celik I, Rothmund M, Bartsch DK. Prevalence of multiple endocrine neoplasia type 1 in young patients with apparently sporadic primary hyper-parathyroidism or pancreaticoduodenal endocrine tumours. Br J Surg. 2003;90:1599-1603. (Pubitemid 37533180)
31. Skandarajah A, Barlier A, Morlet-Barlat N, et al. Should routine analysis of the MEN1 gene be performed in all patients with primary hyperparathyroidism under 40 years of age? World J Surg. 2010;34:1294-1298.
32. Mihai R, Sadler GP, Walker L, Thakker R. Multiple endocrine neoplasia type 1 (MEN1) mutation analysis in patients with primary hyperparathyroidism under the age of 40 years. Endocrine Abstracts. 2010;21:OC4.1.
33. Stratakis CA, Schussheim DH, Freedman SM, et al. Pituitary macroadenoma in a 5-year-old: an early expression of multiple endocrine neoplasia type 1. J Clin Endocrinol Metab. 2000;85:4776-4780. (Pubitemid 32157665)
34. Newey PJ, Jeyabalan J, Walls GV, et al. Asymptomatic children with multiple endocrine neoplasia type 1 mutations may harbor nonfunctioning pancreatic neuroendocrine tumors. J Clin Endocrinol Metab. 2009;94:3640-3646.
35. Waldmann J, Fendrich V, Habbe N, et al. Screening of patients with multiple endocrine neoplasia type 1 (MEN-1): a critical analysis of its value. World J Surg. 2009;33:1208-1218.
36. Thomas-Marques L, Murat A, Delemer B, et al (Groupe des Tumeurs Endocrines [GTE]). Prospective endo-scopic ultrasonographic evaluation of the frequency of nonfunctioning pancreaticoduodenal endocrine tumors in patients with multiple endocrine neoplasia type 1. Am J Gastroenterol. 2006;101:266-273. (Pubitemid 43381666)
37. Triponez F, Dosseh D, Goudet P, et al. Epidemiology data on 108 MEN 1 patients from the GTE with isolated nonfunctioning tumors of the pancreas. Ann Surg. 2006;243:265-272. (Pubitemid 43185447)
38. Langer P, Kann PH, Fendrich V, et al. Prospective evaluation of imaging procedures for the detection of pancreatico-duodenal endocrine tumors in patients with multiple endocrine neoplasia type 1. World J Surg. 2004;28:1317-1322. (Pubitemid 40941299)
39. Triponez F, Goudet P, Dosseh D, et al (French Endocrine Tumor Study Group). Is surgery beneficial for MEN1 patients with small (< or = 2 cm), nonfunctioning pancreaticoduodenal endocrine tumor? An analysis of 65 patients from the GTE [with discussion]. World J Surg. 2006;30:654-664.