Premium
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
Author(s) -
Piolat Christian,
Dyon JeanFrançois,
Sturm Nathalie,
Pinson Stéphane,
Bost Michel,
Jouk PierreSimon,
Plantaz Dominique,
Chabre Olivier
Publication year - 2006
Publication title -
clinical endocrinology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.055
H-Index - 147
eISSN - 1365-2265
pISSN - 0300-0664
DOI - 10.1111/j.1365-2265.2006.02559.x
Subject(s) - medicine , thyroidectomy , ret proto oncogene , thyroid carcinoma , dissection (medical) , neck dissection , lymphadenectomy , pediatrics , medullary carcinoma , lymph node , thyroid , hypoparathyroidism , surgery , carcinoma , general surgery , germline mutation , mutation , genetics , biology , gene
Summary Objective 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. Design and patients 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. Results 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). Conclusions 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.