Prophylactic thyroidectomy in pediatric carriers of multiple endocrine neoplasia type 2A or familial medullary thyroid carcinoma: mutation in C620 is associated with Hirschsprung's disease

Journal of Pediatric Surgery

Volumn 42, Issue 1, 2007, Pages 203-206

  Bütter, Andreana ^a   Gagné, Julie ^a   Al Jazaeri, Ayman ^a   Ali Emran, Mohammad ^a   Deal, Cheri ^a   St Vil, Dickens ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

Author keywords

FMTC; Hirschsprung's disease; MEN2; Pediatric; Prophylactic thyroidectomy

Indexed keywords

PROTEIN RET;

ADOLESCENT; ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; FOLLOW UP; GENE MUTATION; GENETIC SCREENING; HIRSCHSPRUNG DISEASE; HISTOLOGY; HUMAN; HUMAN TISSUE; PATHOGENESIS; PRIORITY JOURNAL; RETROSPECTIVE STUDY; SIPPLE SYNDROME; THYROID GLAND; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY;

ADOLESCENT; AGE FACTORS; CARCINOMA, MEDULLARY; CHILD; CHILD, PRESCHOOL; FEMALE; GENETIC SCREENING; HIRSCHSPRUNG DISEASE; HUMANS; INCIDENCE; MALE; MULTIPLE ENDOCRINE NEOPLASIA TYPE 2A; MUTATION; PREVALENCE; PROTO-ONCOGENE PROTEINS C-RET; RETROSPECTIVE STUDIES; THYROID NEOPLASMS; THYROIDECTOMY;

EID: 33845925574     PISSN: 00223468     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jpedsurg.2006.09.019     Document Type: Article

References (17)

1. Skinner M.A. Management of hereditary thyroid cancer in children. Surg Oncol (2003) 101-104
2. Borrego S., Eng C., Sanchez B., et al. Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease. J Clin Endocrinol 83 (1998) 3361-3364
3. Lallier M., St-Vil D., Giroux M., et al. Prophylactic thyroidectomy for medullary thyroid carcinoma in gene carriers of MEN2 syndrome. J Pediatr Surg 33 (1998) 846-848
4. Frilling A., Weber F., and Tecklenborg C. Prophylactic thyroidectomy in multiple endocrine neoplasia: the impact of molecular mechanisms of RET proto-oncogene. Langenbecks Arch Surg 388 (2003) 17-26
5. Fitze G., Schierz M., Bredow J., et al. Various penetrance of familial medullary thyroid carcinoma in patients with RET protooncogene codon 790/791 germline mutations. Ann Surg 236 (2002) 570-575
6. Mulligan L.M., Eng C., Attie T., et al. Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene. Hum Mol Genet 3 (1994) 2163-2167
7. Ito S., Iwashita T., Asai N., et al. Biological properties of Ret with cysteine mutations correlate with multiple endocrine neoplasia type 2A, familial medullary thyroid carcinoma, and Hirschsprung's disease phenotype. Cancer Res 57 (1997) 2870-2872
8. Brandi M.R., Gagel R.F., Angeli A., et al. Consensus: guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86 (2001) 5658-5671
9. Toledo S.P.A., Cortina M.A., Toledo R.A., et al. Impact of RET proto-oncogene analysis on the clinical management of multiple endocrine neoplasia type 2. Clinics 61 (2006) 59-70
10. Sijmons R.H., Hofstra R.M.W., Wijburg F.A., et al. Oncological implications of RET gene mutations in Hirschsprung's disease. Gut 43 (1998) 542-547
11. Inoue K., Shimotake T., Inoue K., et al. Mutational analysis of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease. J Pediatr Surg 34 (1999) 1552-1554
12. Decker R.A., and Peacock M.L. Occurrence of MEN2A in familial Hirschsprung's disease: a new indication for genetic testing of the RET proto-oncogene. J Pediatr Surg 33 (1998) 207-214
13. Shimotake T., Iwai N., Inoue K., et al. Germline mutations of the RET proto-oncogene in pedigree with MEN type 2A: DNA analysis and its implications for pediatric surgery. J Pediatr Surg 31 (1996) 779-781
14. Albores-Saavedra J.A., and Krueger J.E. C-cell hyperplasia and medullary thyroid carcinoma. Endocr Pathol 12 (2001) 365-377
15. Simpson N.E., Kidd K.K., Goodfellow P.J., et al. Assignment of multiple endocrine neoplasia type 2A to chromosome 10 by linkage. Nature 328 (1987) 528-530
16. Matthew C.G.P., Easton D.F., Nakamura Y., et al. Presymptomatic screening for multiple endocrine neoplasia type 2A with linked DNA markers. Lancet 337 (1991) 7-11
17. Skinner M.A., Moley J.A., Dilley W.G., et al. Prophylactic thyroidectomy in multiple endocrine neoplasia 2A. N Engl J Med 353 (2005) 1105-1113