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
- 6 June 2006
- journal article
- research article
- Published by Wiley in Clinical Endocrinology
- Vol. 65 (1), 118-124
- https://doi.org/10.1111/j.1365-2265.2006.02559.x
Abstract
Genetic diagnosis available since 1993 established germinal mutations of the RET proto-oncogene at codon 634 as the main cause of inherited medullary thyroid carcinoma (MTC). International guidelines established in 1999 recommend that children with such mutations undergo a total thyroidectomy before age 5, with unspecified cervical neck dissection. Since 1993, only 41 of 275 thyroidectomies reported in RET 634 children were performed before age 5 (15%). The aim of this study was to evaluate the implementation of these guidelines in a single centre.Genetic diagnosis was proposed to the parents of all eight children born after 1992 from two RET 634 families. Total thyroidectomy was proposed before age 5 if the child carried a mutation.Genetic diagnosis was performed in all the children (aged 1-3) and thyroidectomy in the five who carried a mutation (aged 2-5). Cervical lymph node dissection varied from lymphadenectomy of central and lateral compartments in the eldest child to pickings in the youngest. There was no permanent hypoparathyroidism or recurrent nerve paralysis. C-cell hyperplasia, medullary thyroid carcinoma and lymph node metastasis were present in 5/5, 3/5 and 0/5, respectively. Undetectable pentagastrin-stimulated CT levels were achieved and maintained postoperatively in all five children (average follow-up 3.6 years).MEN 2 guidelines on thyroidectomy can be efficiently and safely implemented by a multidisciplinary team operating in a single centre. The lack of guidelines on cervical neck dissection remains a problem; this could be solved by determining an age under which this procedure would be deemed unnecessary.Keywords
This publication has 19 references indexed in Scilit:
- Prophylactic Thyroidectomy in Multiple Endocrine Neoplasia Type 2ANew England Journal of Medicine, 2005
- Reference Intervals for Serum Calcitonin in Men, Women, and ChildrenClinical Chemistry, 2004
- Early Malignant Progression of Hereditary Medullary Thyroid CancerNew England Journal of Medicine, 2003
- Prophylactic thyroidectomy in MEN 2A syndrome: experience in a single centerJournal of the American College of Surgeons, 2002
- CONSENSUS: Guidelines for Diagnosis and Therapy of MEN Type 1 and Type 2Journal of Clinical Endocrinology & Metabolism, 2001
- Prognostic factors for survival and for biochemical cure in medullary thyroid carcinoma: results in 899 patientsClinical Endocrinology, 1998
- Early presentation of metastatic medullary carcinoma in multiple endocrine neoplasia, type IIA: Implications for therapyThe Journal of Pediatrics, 1996
- RET proto-oncogene mutations in French MEN 2A and FMTC familiesHuman Molecular Genetics, 1994
- Mutations in the RET proto-oncogene are associated with MEN 2A and FMTCHuman Molecular Genetics, 1993
- Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2ANature, 1993