Multiple endocrine neoplasia type I variants and phenocopies: More than a nosological issue?

Journal of Clinical Endocrinology and Metabolism

Volumn 94, Issue 5, 2009, Pages 1518-1520

  Falchetti, Alberto ^a   Brandi, Maria Luisa ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

DNA POLYMORPHISM; DNA SEQUENCE; EDITORIAL; GENE EXPRESSION; GENE FUNCTION; GENETIC ANALYSIS; GENETIC VARIABILITY; MULTIPLE ENDOCRINE NEOPLASIA; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; PROMOTER REGION; SIGNAL TRANSDUCTION; GENETICS; GERMLINE MICRONUCLEUS; HUMAN; MUTATION; NOTE; PHYSIOLOGY;

CDKN1B PROTEIN, HUMAN; SIGNAL PEPTIDE;

GENETIC VARIATION; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MICRONUCLEUS, GERMLINE; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; MUTATION;

EID: 66149114007     PISSN: 0021972X     EISSN: 0021972X     Source Type: Journal    
DOI: 10.1210/jc.2009-0494     Document Type: Editorial

References (19)

1. Ikeo Y, Sakurai A, Suzuki R, Zhang MX, Koizumi S, Takeuchi Y, Yumita W, Nakayama J, Hashizume K 2000 Proliferation-associated expression of the MEN1 gene as revealed by in situ hybridization: possible role of the menin as a negative regulator of cell proliferation under DNA damage. Lab Invest 80:797-804 (Pubitemid 30421797)
2. Larsson C, Skogseid B, Oberg K, Nakamura Y, Nordenskjold M 1988 Multiple endocrine neoplasia type 1 gene maps to chromosome 11 and is lost in insulinoma. Nature 332:85-87 (Pubitemid 18083554)
3. Dong Q, Debelenko LV, Chandrasekharappa SC, Emmert-Buck MR, Zhuang Z, Guru SC, Manickam P, Skarulis M, Lubensky IA, Liotta LA, Collins FS, Marx SJ, Spiegel AM 1997 Loss of heterozygosity at 11q13: analysis of pituitary tumors, lung carcinoids, lipomas, and other uncommon tumors in subjects with familial multiple endocrine neoplasia type 1. J Clin Endocrinol Metab 82:1416-1420 (Pubitemid 27200411)
4. Simonds WF, Robbins CM, Agarwal SK, Hendy GN, Carpten JD, Marx SJ 2004 Familial isolated hyperparathyroidism is rarely caused by germline mutation in HRPT2, the gene for the hyperparathyroidism-jaw tumor syndrome. J Clin Endocrinol Metab 89:96-102 (Pubitemid 38183866)
5. Pannett AA, Kennedy AM, Turner JJ, Forbes SA, Cavaco BM, Bassett JH, Cianferotti L, Harding B, Shine B, Flinter F, Maidment CG, Trembath R, Thakker RV 2003 Multiple endocrine neoplasia type 1 (MEN1) germline mutations in familial isolated primary hyperparathyroidism. Clin Endocrinol (Oxf) 58639-58646
6. Warner J, Epstein M, Sweet A, Singh D, Burgess J, Stranks S, Hill P, Perry-Keene D, Learoyd D, Robinson B, Birdsey P, Mackenzie E, Teh BT, Prins JB, Cardinal J 2004 Genetic testing in familial isolated hyperparathyroidism: unexpected results and their implications. J Med Genet 41:155-160 (Pubitemid 38333791)
7. Marx SJ 2001 Multiple endocrine neoplasia type 1. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. New York: McGraw-Hill
8. Pollak MR, Brown EM, Chou YH, Hebert SC, Marx SJ, Steinmann B, Levi T, Seidman CE, Seidman JG 1993 Mutations in the human Ca2+-sensing receptor gene cause familial hypocalciuric hypercalcemia and neonatal severe hyperparathyroidism. Cell 75:1297-1303 (Pubitemid 2030445)
9. Carpten JD, Robbins CM, Villablanca A, Forsberg L, Presciuttini S, Bailey-Wilson J, Simonds WF, Gillanders EM, Kennedy AM, Chen JD, Agarwal SK, Sood R, Jones MP, Moses TY, Haven C, Petillo D, Leotlela PD, Harding B, Cameron D, Pannett AA, Höög A, Heath 3rd H, James-Newton LA, Robinson B, Zarbo RJ, Cavaco BM, Wassif W, Perrier ND, Rosen IB, Kristoffersson U, Turnpenny PD, Farnebo LO, Besser GM, Jackson CE, Morreau H, Trent JM, Thakker RV, Marx SJ, Teh BT, Larsson C, Hobbs MR 2002 HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet 32:676-680
10. Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Höfler H, Fend F, Graw J, Atkinson MJ 2006 Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans. Proc Natl Acad Sci USA 103:15558-15563 (Pubitemid 44625631)
11. Agarwal SK, Mateo CM, Marx SJ 2009 Rare germline mutations in cyclindependent kinase inhibitor genes in MEN1 and related states. J Clin Endocrinol Metab 94:1826-1834
12. Tham E, Grandell U, Lindgren E, Toss G, Skogseid B, Nordenskjöld M 2007 Clinical testing for mutations in the MEN1 gene in Sweden: a report on 200 unrelated cases. J Clin Endocrinol Metab 92:3389-3395 (Pubitemid 47435311)
13. Lemos MC, Thakker RV 2008 Multiple endocrine neoplasia type 1 (MEN1): analysis of 1336 mutations reported in the first decade following identification of the gene. Hum Mutat 29:22-32
14. Balogh K, Racz K, Patocs A, Hunyady L 2006 Trends Endocrinol Metab 17:357-364
15. Milne TA, Hughes CM, Lloyd R, Yang Z, Rozenblatt-Rosen O, Dou Y, Schnepp RW, Krankel C, Livolsi VA, Gibbs D, Hua X, Roeder RG, Meyerson M, Hess JL 2005 Menin and MLL cooperatively regulate expression of cyclindependent kinase inhibitors. Proc Natl Acad Sci USA 102:749-754 (Pubitemid 40282737)
16. Karnik SK, Hughes CM, Gu X, Rozenblatt-Rosen O, McLean GW, Xiong Y, Meyerson M, Kim SK 2005 Menin regulates pancreatic islet growth by promoting histone methylation and expression of genes encoding p27Kip1 and p18INK4c. Proc Natl Acad Sci USA 102:14659-14664 (Pubitemid 41457112)
17. Lindberg D, Akerström G, Westin G 2008 Evaluation of CDKN2C/p18, CDKN1B/p27 and CDKN2B/p15 mRNA expression, and CpG methylation status in sporadic and MEN1-associated pancreatic endocrine tumours. Clin Endocrinol (Oxf) 2008 68:271-277
18. Lindberg D, Akerström G, Westin G 2007 Mutational analysis of p27 (CDKN1B) and p18 (CDKN2C) in sporadic pancreatic endocrine tumors argues against tumor-suppressor function. Neoplasia 9:533-555 (Pubitemid 47121826)
19. Harper JW 1997 Cyclin dependent kinase inhibitors. Cancer Surv 29:91-107 (Pubitemid 27262243)