Long-term follow-up of an 8-year-old boy with insulinoma as the first manifestation of a familial form of multiple endocrine neoplasia type 1;Seguimento de longo prazo em um menino de 8 anos de idade com insulinoma como primeira manifestação de neoplasia endócrina múltipla tipo 1

Arquivos Brasileiros de Endocrinologia e Metabologia

Volumn 54, Issue 8, 2010, Pages 754-760

  Fabbri, Helena Campos ^a   de Mello, Maricilda Palandi ^a   Soardi, Fernanda Caroline ^a   Esquiaveto Aun, Adriana Mangue ^a   de Oliveira, Daniel Minutti ^a   Denardi, Fernanda Canova ^a   Moura Neto, Arnaldo ^a   Garmes, Heraldo Mendes ^a   Baptista, Maria Tereza Matias ^a   de Matos, Patrícia Sabino ^a   de Lemos Marini, Sofia Helena Valente ^a   D'Souza Li, Lilia Freire Rodrigues ^a   Guerra Júnior, Gil ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

[No Author keywords available]

Indexed keywords

MEN1 PROTEIN, HUMAN; ONCOPROTEIN;

ARTICLE; CASE REPORT; CHILD; GENETICS; HUMAN; INSULINOMA; INTRON; MALE; MULTIPLE ENDOCRINE NEOPLASIA; MUTATION; PANCREAS TUMOR; PEDIGREE;

CHILD; HUMANS; INSULINOMA; INTRONS; MALE; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; MUTATION; PANCREATIC NEOPLASMS; PEDIGREE; PROTO-ONCOGENE PROTEINS;

EID: 79951991143     PISSN: 00042730     EISSN: 16779487     Source Type: Journal    
DOI: 10.1590/S0004-27302010000800016     Document Type: Article

References (30)

1. Carling T. Multiple endocrine neoplasia syndrome: genetic basis for clinical management. Curr Opin Oncol. 2005;17:7-12.
2. Guang-Wen Z, Yao W, Xi C, Xiao-Hua J, Xiao-Ying L, Guang N, et al. Diagnosis and surgical treatment of multiple endocrine neoplasia. Chin Med J. 2009;122:1495-500.
3. Brandi ML, Gagel RF, Angell A, Bilczikian JP, Beck-Peccoz P, Bordi C, et al. Consensus: guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. 2001;86:5658-5671.
4. Newey PJ, Jeyabalan J, Walls GV, Christie PT, Gleeson FV, Gould S, et al. Nonfunctioning tumors in children with MEN1. J Clin Endocrinol Metab. 2009;94:3640-3646.
5. Corbetta S, Pizzocaro A, Peracchim, Beck-Peccoz P, Faglia G, Spada A. Multiple endocrine neoplasia type 1 in patients with recognized pituitary tumours of different types. Clin Endocrinol. 1997;47:507-512.
6. Yoshimoto K, Saito S. Clinical characteristics in multiple endocrine neoplasia type 1 in Japan: a review of 106 patients. Nippon Naibunpi Gakkai Zasshi. 1991;67:764-774.
7. Marx SJ, Spiegel AM, Skarulis MC, Doppman JL, Collins PS, Liotta LA. Multiple endocrine neoplasia type 1: clinical and genetic topics. Ann Intern Med. 1998;129:484-494.
8. Chandrasckharappa SC, Guru SC, Manickan P, Olufemi SE, Collins PS, Emmert-Buck MR, et al. Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science. 1997;276:404-407.
9. Franchi GM, Villa VV, Carrera P, Sartorio SM, Maffi P, Bosi E, et al. A new mutation in the MEN1 gene. Cancer Genet Cytogenet. 2009;192:199-201.
10. Kim H, Lee JR, Cho EJ, Liu JO, Youn HD. Menin, a tumor suppressor, represses JunD-mediated transcriptional activity by association with mSln3A-histonic deacctylase complex. Cancer Res. 2003;63:6135-6139.
11. Falchetti A, Marini F, Brandi ML. Multiple endocrine neoplasia. GeneReviews 2010. Available at: http://www.ncbi.nlm.nih.gov/bookshelf/ br.fcgi?book=gene&part=men1. Accessed at: 27 Jul 2010.
12. Geerdink BAM, Van der Luijt RB, Lips CJM. Do patients with multiple endocrine neoplasia syndrome type 1 benefit from periodical screening? Eur J Endocrinol. 2003;149:577-582.
13. Falchetti A, Brandi ML. Multiple endocrine neoplasia type I variants and phenocopies: more than a nosological issue? J Clin Endocrinol Metab. 2009;94:1518-1520.
14. Marx SJ, Nieman LK. Aggressive pituitary tumours in MEN1: do they refute the two-hit model of tmorigenesis? J Clin Endocrinol Metab. 2002;87:453-456.
15. Sambrook J, Fritsch EF, Maniatis TE. Molecular cloning, a laboratory manual. New York: Cold Spring Harbor; 1989.
16. Lourenço Jr DM, Coutinho FL, Toledo RA, Montenegro FL, Correia- Deur JE, Toledo SP. Early-onset, progressive, frequent, extensive, and severe bone mineral and renal complications in multiple endocrine neoplasia type 1-associated primary hyperparathyroidism. J Bone Miner Res. 2010;25(11):2382-2391.
17. Ruszniewski P, Fave GD, Cadiot G, Komminoth P, Chung D, Kos- -Kudla B. Well-differentiated gastric tumors/carcinomas. Neuroendocrinology. 2006;84:158-164.
18. Schussheim DH, Skarulis MC, Agarwal SK, Simonds WF, Burns AL, Spiegel AM, et al. Multiple endocrine neoplasia type 1: new clinical and basic findings. Trends Endocrinol Metab. 2001;12:173-178.
19. Rix M, Hertel NT, Nielsen FC, Jacobsen BB, Hoejberg AS, Brixen K, et al. Cushing's disease in childhood as the first manifestation of multiple endocrine neoplasia syndrome type 1. Eur J Endocrinol. 2004;151:709-715.
20. Correa P, Lundgren E, Rastad J, åkerström G, Westin G, Carling T. Multiple endocrine neoplasia type 1 polymorphism D418D is associated with sporadic primary hyperparathyroidism. Surgery. 2002;132:450-455.
21. Toledo RA, Lourenço DM, Coutinho FL, Quedas E, Mackowiack I, Machado MC, et al. Novel MEN1 germline mutations in Brazilian families with multiple endocrine neoplasia type 1. Clin Endocrinol. 2007;67:377-384.
22. Lourenço Jr DM, 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 (Sao Paulo). 2007;62:465-476.
23. Stratakis CA, Shussheim DH, Freedman SM, Keil MF, Pack SD, Agarwal SK, et al. Pituitary macroadenoma in 5-year-old: an early expression of multiple endocrine neoplasia type 1. J Clin Endocrinol Metab. 2000;85:4776-4780.
24. Kontogeorgos G, Kapranos N, Tzavara I, Thalassinos N, Rologis D. Monossomy of chromosome 11 in pituitary adenoma in a patient with familial multiple endocrine neoplasia type 1. Clin Endocrinol. 2001;54:117-120.
25. Johnston LB, Chew SL, Trainer PJ, Reznck R, Grossman AB, Besser GM, et al. Screening children at risk of developing inherited endocrine neoplasia syndromes. Clin Endocrinol. 2000;52:127-136.
26. Johnston LB, Chew SL, Lowe D, Reznck R, Monsom JP, Savage MO. Investigating familial endocrine neoplasia syndromes in children. Horm Res. 2001;55:31-35.
27. Lourenço Jr DM, Toledo RA, Mackowiak II, Coutinho FL, Cavalcanti MG, Correia-Deur JE, 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.
28. Görtz B, Roth J, Speel EJM, Krähemmann A, De Krieger RR, Matias-Guiu X, et al. MEN1 gene mutation analysis of sporadic adrenocortical lesions. Int J Cancer. 1999;80:373-379.
29. Kishi M, Tsukada T, Shimizu S, Hosono K, Ohkubo T, Kosuge T, et al. A novel splicing mutation (894-9 G-A) of the MEN1 gene responsible for multiple endocrine neoplasia type 1. Cancer Letters. 1999;142:105-110.
30. Bassett JH, Forbes SA, Pannett AA, Lloyd SE, Christie PT, Wooding C, et al. Characterization of mutations in patients with multiple endocrine neoplasia type 1. Am J Hum Genet 1998;62:232-244.