The risk of medullary thyroid carcinoma in patients with Hirschsprung's disease

Pediatric Surgery International

Volumn 22, Issue 12, 2006, Pages 991-995

  Škába, Richard ^a   Dvořáková, Šárka ^b   Václavíková, Eliška ^b   Vlček, Petr ^a   Frantlová, Miroslava ^a   Bendlová, Běla ^b  

^a CHARLES UNIVERSITY   (Czech Republic)

^b INSTITUTE OF ENDOCRINOLOGY   (Czech Republic)

Author keywords

Genetics; Hirschsprung's disease; Medullary thyroid carcinoma; RET proto oncogene

Indexed keywords

CALCITONIN; DOUBLE STRANDED DNA;

ADOLESCENT; ADULT; ARTICLE; CANCER RISK; CANCER SURGERY; CHILD; CLINICAL ARTICLE; CODON; COLON AGANGLIONOSIS; COLON RESECTION; DNA ISOLATION; DNA SEQUENCE; EXON; FAMILY; FEMALE; GENE MUTATION; GENETIC ANALYSIS; GENETIC RISK; GENETIC SCREENING; GERM LINE; HETEROZYGOSITY; HIRSCHSPRUNG DISEASE; HUMAN; INFANT; MALE; ONCOGENE RET; PRIORITY JOURNAL; PROSPECTIVE STUDY; PROTO ONCOGENE; RETROSPECTIVE STUDY; RISK ASSESSMENT; THYROID MEDULLARY CARCINOMA; THYROIDECTOMY;

ADOLESCENT; ADULT; CARCINOMA, MEDULLARY; CHILD; CHILD, PRESCHOOL; COMORBIDITY; FEMALE; GERM-LINE MUTATION; HIRSCHSPRUNG DISEASE; HUMANS; INFANT; MALE; MIDDLE AGED; PROTO-ONCOGENE PROTEINS C-RET; RISK; THYROID NEOPLASMS;

EID: 33751272660     PISSN: 01790358     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00383-006-1785-6     Document Type: Article

References (23)

1. Coran AG (2004) Hirschsprung's disease. In: Neill JA Jr, Grosfeld JL, Fonkalsrud EW, Coran AG, Caldamone AA (eds) Principles of pediatric surgery. Mosby, St. Louis, pp 573-586
2. Puri P (2000) Hirschsprung's disease: clinical generalities. In: Hollschneider AM, Puri P (eds) Hirschsprung's disease and allied disorders. Harwood academic publishers, Amsterdam, pp 129-136
3. Parisi MA, Kapur RP (2000) Genetics of Hirschsprung disease. Curr Opin Pediatr 12:610-617
4. Lantieri F, Griseri P, Ceccherini I (2006) Molecular mechanisms of RET-induced Hirschsprung pathogenesis. Ann Med 38:11-19
5. Edery P, Lyonnet S, Mulligan L, Pelet A, Dow E, Abel L, Holder S, Nihoul-Fekete C, Ponder BA, Munnich A (1994) Mutations of the RET proto-oncogene in Hirschsprung's disease. Nature 367:378-380
6. Hansford JR, Mulligan LM (2000) Multiple endocrine neoplasia type 2 and RET: from neoplasia to neurogenesis. J Med Genet 37:817-827
7. Brandi ML, Gagel RF, Angeli A, Bilezikian JP, Beck-Peccoz P, Bordi C, Conte-Devolx B, Falchetti A, Gheri RG, Libroia A, Lips CJ, Lombardi G, Mannelli M, Pacini F, Ponder BA, Raue F, Skogseid B, Tamburrano G, Thakker RV, Thompson NW, Tomassetti P, Tonelli F, Wells SA Jr, Marx SJ (2001) Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab 86:5658-5671
8. Jindrichova S, Vlcek P, Bendlova B (2004) Genetic causes of the thyroid carcinomas. Cas Lek Cesk 143:664-668
9. Arighi E, Popsueva A, Innocenti DD, Borrello MG, Carniti C, Perala NM, Pierotti MA, Sariola H (2004) Biological effects of the dual phenotypic Janus mutation of ret co-segregating with both multiple endocrine neoplasia type 2 and Hirschsprung's disease. Mol Endocrinol 18:1004-1017
10. Pelet A, Geneste O, Edery P, Pasini A, Chappuis S, Atti T, Munnich A, Lenoir G, Lyonnet S, Billaud M (1998) Various mechanisms cause RET-mediated signalling defects in Hirschsprung's disease. J Clin Invest 101:1415-1423
11. Inoue K, Shimotake T, Inoue K, Tokiwa K, Iwai N (1999) Mutational analysis of the RET proto-oncogene in a kindred with multiple endocrine neoplasia type 2A and Hirschsprung's disease. J Pediatr Surg 34:1552-1554
12. Dvořáková S, Dvořáková K, Malíková M, Škába R, Vlček P, Bendlová B (2005) A novel Czech kindred with familial medullary thyroid carcinoma and Hirschsprung's disease. J Pediatr Surg 40:E1-E6
13. Romeo G, Ceccherini I, Celli J, Priolo M, Betsos N, Bonardi G, Seri M, Yin L, Lerone M, Jasonni V, Martucciello G (1998) Association of multiple endocrine neoplasia type 2 and Hirschsprung disease. J Intern Med 243:515-520
14. Sijmons RH, Hofstra RMW, Wijburg FA, Links TP, Zwierstra RP, Vermey A, Aronson DC, Tan-Sindhunata G, Brouwers-Smalbraak GJ, Maas SM, Buys CH (1998) Oncological implications of RET gene mutations in Hirschsprung's disease. Gut 43:542-547
15. Decker RA, Peacock ML, Watson P (1998) Hirschsprung disease in MEN2A: increased spectrum of RET exon 10 genotypes and strong genotype-phenotype correlation. Hum Mol Genet 7:129-134
16. Pasini B, Rossi R, Ambrosio MR, Zatelli MC, Gullo M, Gobbo M, Collini P, Aiello A, Pansini G, Trasforini G, degli Uberti EC (2002) RET mutation profile and variable clinical manifestations in a family with multiple endocrine neoplasia type 2A and Hirschsprung's disease. Surgery 131:373-381
17. Borrego S, Eng C, Sanchez B, Saez ME, Navarro E, Antinolo G (1998) Molecular analysis of the ret and GDNF genes in a family with multiple endocrine neoplasia type 2A and Hirschsprung disease. J Clin Endocrinol Metab 83:3361-3364
18. Škába R, Dudorkinová D, Lojda Zd, Dvořáková H, Pýcha K, Kabelka M (1994) Kasai's rectoplasty in the treatment of Hirschsprung's disease and another types of colorectal dysganglionosis in children. Analysis of 94 cases. Pediatr Surg Int 9:503-506
19. Sasaki Y, Shimotake T, Go S, Iwai N (2001) Total thyroidectomy for hereditary medullary thyroid carcinoma 12 years after correction of Hirschsprung's disease. Eur J Surg 167:467-469
20. Pakarinen MP, Rintala RJ, Koivusalo A, Heikkinen M, Lindahl H, Pukkala E (2005) Increased incidence of medullary thyroid carcinoma in patients treated for Hirschsprung's disease. J Pediatr Surg 40:1532-1534
21. Fitze G, Schierz M, Bredow J, Saeger HD, Roesner D, Schackert HK (2002) Various penetrance of familial medullary thyroid carcinoma in patients with RET protooncogene codon 790/791 germline mutations. Ann Surg 236:570-575
22. Gimm O, Niederle BE, Weber T, Bockhorn M, Ukkat J, Brauckhoff M, Thanh PN, Frilling A, Klar E, Niederle B, Dralle H (2002) RET proto-oncogene mutations affecting codon 790/791: a mild form of multiple endocrine neoplasia type 2A syndrome? Surgery 132:952-959
23. Kim SM, Oh JT, Cho SH (2006) Hirschsprung's disease in Korea clinical experience of 233 cases in single tertiary medical center. Jpn Soc Pediatr Surg 43:385