Journal of Pediatric Surgery
Volume 45, Issue 8 , Pages 1610-1616 , August 2010

Role of RET codonic mutations in the surgical management of medullary thyroid carcinoma in pediatric age multiple endocrine neoplasm type 2 syndromes

  • Claudio Spinelli

      Affiliations

    • Department of Surgery, University of Pisa, 56126 Pisa, Italy
    • Corresponding Author InformationCorresponding author. Tel.: +39 050 992 423, +39 333 40 69 061 (Mobile); fax: +39 050 992 098.
    • ,
  • Martina Di Giacomo

      Affiliations

    • Department of Surgery, University of Pisa, 56126 Pisa, Italy
    • ,
  • Sara Costanzo

      Affiliations

    • Department of Surgery, University of Pisa, 56126 Pisa, Italy
    • ,
  • Rossella Elisei

      Affiliations

    • Department of Endocrinology, University of Pisa, 56126 Pisa, Italy
    • ,
  • Paolo Miccoli

      Affiliations

    • Chief General Surgery Department, University of Pisa, 56126 Pisa, Italy

Received 20 July 2009 ,Revised 3 March 2010 ,Accepted 16 March 2010.

References 

  1. White ML, Doherty GM. Multiple endocrine neoplasia. Surg Oncol Clin N Am. 2008;17(2):439–459
  2. 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. 1996;31:779–781
  3. Elisei R, Cosci B, Romei C, et al. RET exon 11 (G691S) polymorphism is significantly more frequent in sporadic medullary thyroid carcinoma than in the general population. J Clin Endocrinol Metab. 2004;89:3579–3584
  4. Brandi ML, Gagel RF, Angeli A, et al. Guidelines for diagnosis and therapy of MEN type 1 and type 2. J Clin Endocrinol Metab. 2001;86:5658–5671
  5. Rodriguez GJ, Balsalobre MD, Pomares F, et al. Prophylactic thyroidectomy in MEN 2A syndrome: experience in a single center. J Am Coll Surg. 2002;195:159–166
  6. Erdogan MF, Gursoy A. Multiple endocrine neoplasia type 2 and sporadic medullary thyroid carcinoma: Turkish experience. Pediatr Endocrinol Rev. 2007;5(1):470
  7. American Joint Committee on Cancer . Cancer Staging Handbook. 6th ed.. New York: Sprinter-Verlag; 2002;
  8. Toledo SP, Dos Santos MA, Toledo Rde A, et al. Impact of RET proto-oncogene analysis on the clinical management of multiple endocrine neoplasia type 2. Clinics. 2006;61:59–70
  9. Machens A, Niccoli-Sire P, Hoegel J, et al. European Multiple Endocrine Neoplasia (EUROMEN) Study Group. Early malignant progression of hereditary medullary thyroid cancer. N Engl J Med. 2003;349:1517–1525
  10. Kebebew E, Ituarte PH, Siperstein AE, et al. Medullary thyroid carcinoma: clinical characteristics, treatment, prognostic factors, and a comparison of staging systems. Cancer. 2000;1(88):1139–1148
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  12. Al-Rawi M, Wheeler MH. Medullary thyroid carcinoma-update and present management controversies. Ann R Coll Surg Engl. 2006;88(5):433–438
  13. Spinelli C, Bertocchini A, Donatini G, et al. Minimally invasive video-assisted thyroidectomy: report of 16 cases in children older than 10 years. J Pediatr Surg. 2004;39(9):1312–1315
  14. Timon C, Miller IS. Minimally invasive video-assisted thyroidectomy: indications and technique. Laryngoscope. 2006;116(6):1046–1049
  15. Ruggieri M, Straniero A, Genderini M, et al. The size criteria in minimally invasive video-assisted thyroidectomy. BMC Surg. 2007;25(7):2
  16. Spinelli C, Donatini G, Berti P, et al. Minimally invasive video-assisted thyroidectomy in pediatric patients. J Pediatr Surg. 2008;43(7):1259–1261
  17. Quayle FJ, Moley JF. Medullary thyroid carcinoma: including MEN 2A and MEN 2B syndromes. J Surg Oncol. 2005;89(3):122–129
  18. Kahraman T, De Groot JW, Rouwe C, et al. Acceptable age for prophylactic surgery in children with multiple endocrine neoplasia type 2a. Eur J Surg Oncol. 2003;29(4):331–335
  19. Skinner MA, DeBenedetti MK, Moley JF, et al. Medullary thyroid carcinoma in children with multiple endocrine neoplasia types 2A and 2B. J Pediatr Surg. 1996;31(1):177–181
  20. Butter A, Gagne J, Al-Jazaeri A, et al. 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. J Pediatr Surg. 2007;42(1):203–206
  21. Moore SW, Appfelstaedt J, Zaahl MG. Familial medullary carcinoma prevention, risk evaluation, and RET in children of families with MEN2. J Pediatr Surg. 2007;42(2):326–332
  22. Piolat C, Dyon JF, Sturm N, et al. Very early prophylactic thyroid surgery for infants with a mutation of the RET proto-oncogene at codon 634: evaluation of the implementation of international guidelines for MEN type 2 in a single centre. Clin Endocrinol (Oxf). 2006;65(1):118–124
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PII: S0022-3468(10)00293-9

doi: 10.1016/j.jpedsurg.2010.03.019

Journal of Pediatric Surgery
Volume 45, Issue 8 , Pages 1610-1616 , August 2010

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