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Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B

Paediatric Endocrinology Department, Centre de Référence Maladies Endocriniennes Rares de la Croissance¹ Paediatric Surgery Department² Pathology Department³ Medical Genetics Department, Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Paris VII University, 48 Boulevard Sérurier, 75019 Paris, France⁴ Medical Oncogenetic Department, Assistance Publique-Hôpitaux de Paris, Lariboisiere Hospital, Paris VII University, 75010 Paris, France⁵ , Paediatric Gastroenterology Department⁶ Biochemistry Department, Assistance Publique-Hôpitaux de Paris, Robert Debré Hospital, Paris VII University, 75019 Paris, France⁷ Biochemistry and Molecular Biology and Genetics Department, Assistance Publique-Hôpitaux de Paris, Saint-Antoine Hospital, UPMC University Paris VI, 75012 Paris, France⁸ Endocrinology Department, Assistance Publique-Hôpitaux de Paris, Lariboisiere Hospital, Paris VII University, 75010 Paris, France⁹ , Nuclear Medicine Department¹⁰ Surgery Department, Gustave Roussy Institute and University Paris XI, 94800 Villejuif, France

(Correspondence should be addressed to J Léger; Email: juliane.leger{at}rdb.aphp.fr)

Context: Early prophylactic thyroidectomy in patients with multiple endocrine neoplasia (MEN) type 2 offers the best chance for a normal life expectancy.

Objective: To analyze the results of thyroidectomy performed during the first year of life in six patients with MEN 2A (codon 634) or MEN 2B (codon 918) syndrome.

Design and setting: A university hospital-based prospective study from 2001 to 2008.

Subjects and methods: Six family members affected either by MEN 2A (n=3) or MEN 2B (n=3) syndrome were identified through neonatal genetic screening.

Results: Total thyroidectomy was performed at a median age of 0.8 year in the six patients, with central lymph node dissection in five. Bilateral millimetric medullary thyroid carcinoma (MTC) was found in all patients, with a unilateral lymph node micrometastasis in two of the three MEN 2B patients. Before thyroidectomy, MEN 2B patients had much higher basal serum calcitonin levels than those with MEN 2A and controls. After thyroidectomy, with a median follow-up of 3.3 years, the six patients had no evidence of persistent MTC.

Conclusion: Bilateral millimetric MTC may be present during the first year of life in these patients, with lymph node metastases also occurring in MEN 2B patients. These results support a total thyroidectomy at the age of about one year in MEN 2A (codon 634) children with an abnormal serum calcitonin level, and a total thyroidectomy with central neck dissection within the first weeks of life in MEN 2B patients.