Coexistence of multiple endocrine neoplasia type 1 and type 2 in a large Italian family

Endocrine

Volumn 40, Issue 3, 2011, Pages 481-485

  Mastroianno, Sandra ^a   Torlontano, Massimo ^a   Scillitani, Alfredo ^a   D'Aloiso, Leonardo ^a   Verrienti, Antonella ^b   Bonfitto, Nazario ^a   De Bonis, Antonio ^a   D'Agruma, Leonardo ^a   Muscarella, Lucia Anna ^a   Guarnieri, Vito ^a   Dicembrino, Franca ^a   Maranghi, Marianna ^b   Durante, Cosimo ^b   Filetti, Sebastiano ^b  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

Author keywords

Medullary thyroid cancer; MEN1; MEN2; Primary hyperparathyroidism

Indexed keywords

ADOLESCENT; ADULT; ARTICLE; CHILD; CLINICAL ARTICLE; COMORBIDITY; ENDOCRINE TUMOR; EXON; FAMILIAL DISEASE; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC ASSOCIATION; HETEROZYGOTE; HUMAN; ITALY; MALE; MEN1 GENE; MEN2 GENE; MULTIPLE ENDOCRINE NEOPLASIA; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2; ONCOGENE; ONCOGENE RET; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; FAMILY; GENETICS; HOSPITALIZATION; MIDDLE AGED; MUTATION; PEDIGREE; SIPPLE SYNDROME;

MEN1 PROTEIN, HUMAN; ONCOPROTEIN; PROTEIN RET; RET PROTEIN, HUMAN;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; FAMILY; FEMALE; GERM-LINE MUTATION; HETEROZYGOTE; HUMANS; MALE; MIDDLE AGED; MULTIPLE ENDOCRINE NEOPLASIA TYPE 1; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; PEDIGREE; PROTO-ONCOGENE PROTEINS; PROTO-ONCOGENE PROTEINS C-RET; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84858758372     PISSN: 1355008X     EISSN: 15590100     Source Type: Journal    
DOI: 10.1007/s12020-011-9501-2     Document Type: Article

References (17)

1. A.A. Pannett, R.V. Thakker, Multiple endocrine neoplasia type 1. Endocr. Relat. Cancer 6, 449-473 (1999) (Pubitemid 30048456)
2. J.E. Phay, J.F. Moley, T.C. Lairmore, Multiple endocrine neoplasias. Semin. Surg. Oncol. 18, 324-332 (2000) (Pubitemid 30253025)
3. M.L. Brandi, R.F. Gagel, A. Angeli, Guidelines for diagnosis and therapy of MEN type 1 and type 2. J. Clin. Endocrinol. Metab. 186, 5658-5671 (2001) (Pubitemid 33152604)
4. T. Carling, Multiple endocrine neoplasia syndrome: genetic basis for clinical management. Curr. Opin. Oncol. 17, 7-12 (2005) (Pubitemid 40179904)
5. S.C. Chandrasekharappa, B.T. Teh, Functional studies of the MEN1 gene. J. Intern. Med. 253, 606-615 (2003) (Pubitemid 36649092)
6. M.C. Lemos, R.V. Thakker, 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 (2008)
7. J.W. de Groot, T.P. Links, J.T. Plukker, C.J. Lips, R.M. Hofstra, RET as a diagnostic and therapeutic target in sporadic and hereditary endocrine tumors. Endocr. Rev. 27, 535-560 (2006) (Pubitemid 44213230)
8. American Thyroid Association Guidelines Task Force, R.T. Kloos, C. Eng, D.B. Evans, G.L. Francis, R.F. Gagel, H. Gharib, J.F. Moley, F. Pacini, M.D. Ringel, M. Schlumberger, S.A. Wells Jr., Medullary thyroid cancer: management guidelines of the American Thyroid Association. Thyroid 19, 565-612 (2009)
9. L. D'Aloiso, F. Carlomagno, M. Bisceglia, S. Anaganti, E. Ferretti, A. Verrienti, F. Arturi, D. Scarpelli, D. Russo, M. Santoro, S. Filetti, Clinical Case seminar: in vivo and in vitro characterization of a novel germline RET mutation associated with low-penetrant nonaggressive familial medullary thyroid carcinoma. J. Clin. Endocrinol. Metab. 91, 754-759 (2006) (Pubitemid 43357734)
10. F. Lombardo, E. Baudin, E. Chiefari, F. Arturi, S. Bardet, B. Caillou, C. Conte, B. Dallapiccola, D. Giuffrida, J.M. Bidart, M. Schlumberger, S. Filetti, Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon 804. J. Clin. Endocrinol. Metab. 87, 1674-1680 (2002) (Pubitemid 34615256)
11. M.D. Castellone, A. Verrienti, D.M. Rao, M. Sponziello, D. Fabbro, M. Muthu, C. Durante, M. Maranghi, G. Damante, S. Pizzolitto, G. Costante, D. Russo, M. Santoro, S. Filetti, A novel de novo germ-line V292 mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: functional characterization. Clin. Endocrinol. 73, 529-534 (2010)
12. D. Scarpelli, L. D'Aloiso, F. Arturi, A. Scillitani, I. Presta, M. Bisceglia, C. Cristofaro, D. Russo, S. Filetti, Novel somatic MEN1 gene alterations in sporadic primary hyperparathyroidism and correlation with clinical characteristics. J. Endocrinol. Invest. 27, 1015-1021 (2004)
13. S.A. Ahmed, K. Snow-Bailey, W.E. Highsmith, W. Sun, R.G. Fenwick, R. Mao, Nine novel germline gene variants in the RET proto-oncogene identified in twelve unrelated cases. J. Mol. Diagn. 7, 283-288 (2005) (Pubitemid 40668312)
14. M. Muzza, D. Cordella, J. Bombled, B. Bressac-de Paillerets, F. Guizzardi, Z. Francis, P. Beck-Peccoz, M. Schlumberger, L. Persani, L. Fugazzola, Four novel RET germline variants in exons 8 and 11 display an oncogenic potential in vitro. Eur. J. Endocrinol. 162, 771-777 (2010)
15. K. Frank-Raue, S. Rondot, W. Hoeppner, P. Goretzki, F. Raue, W. Meng, Coincidence of multiple endocrine neoplasia types 1 and 2: mutations in the RET protooncogene and MEN1 tumor suppressor gene in a family presenting with recurrent primary hyperparathyroidism. J. Clin. Endocrinol. Metab. 90, 4063-4067 (2005) (Pubitemid 41058173)
16. A.O. Vortmeyer, I.A. Lubensky, M. Skarulis, G. Li, Y.W. Moon, W.S. Park, R. Weil, C. Barlow, A.M. Spiegel, S.J. Marx, Z. Zhuang, Multiple endocrine neoplasia type 1: atypical presentation, clinical course, and genetic analysis of multiple tumors. Mod. Pathol. 12, 919-924 (1999) (Pubitemid 29444559)
17. L. Davies, H.G. Welch, Increasing incidence of thyroid cancer in the United States, 1973-2002. JAMA 295, 2164-2167 (2006)