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

• Published in: European journal of endocrinology Vol. 160; no. 5; pp. 807 - 813
• Main Authors: Zenaty, D, Aigrain, Y, Peuchmaur, M, Philippe-Chomette, P, Baumann, C, Cornelis, F, Hugot, J P, Chevenne, D, Barbu, V, Guillausseau, P J, Schlumberger, M, Carel, J C, Travagli, J P, Léger, J
• Format: Journal Article
• Language: English
• Published: Bristol BioScientifica 01-05-2009
• Subjects: Biological and medical sciences; Carcinoma, Medullary - complications; Carcinoma, Medullary - diagnosis; Carcinoma, Medullary - surgery; Child; Child, Preschool; Clinical Study; Codon - genetics; Endocrinopathies; Family; Female; Follow-Up Studies; Fundamental and applied biological sciences. Psychology; General aspects; Genetic Testing; Humans; Infant; Infant, Newborn; Male; Malignant tumors; Medical sciences; Multiple Endocrine Neoplasia Type 2a - complications; Multiple Endocrine Neoplasia Type 2a - diagnosis; Multiple Endocrine Neoplasia Type 2a - genetics; Multiple Endocrine Neoplasia Type 2b - complications; Multiple Endocrine Neoplasia Type 2b - diagnosis; Multiple Endocrine Neoplasia Type 2b - genetics; Neonatal Screening; Thyroid Neoplasms - complications; Thyroid Neoplasms - diagnosis; Thyroid Neoplasms - surgery; Thyroid. Thyroid axis (diseases); Thyroidectomy; Vertebrates: endocrinology; Endocrinopathy; Human; Thyroid diseases; Identification; Thyroid medullary carcinoma; Malignant tumor; Hereditary; Genetic disease; Codon; Multiple endocrine neoplasia; Child; Endocrinology; Cancer
• ISSN: 0804-4643; 1479-683X
• DOI: 10.1530/EJE-08-0854

ContextEarly prophylactic thyroidectomy in patients with multiple endocrine neoplasia (MEN) type 2 offers the best chance for a normal life expectancy.ObjectiveTo 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 settingA university hospital-based prospective study from 2001 to 2008.Subjects and methodsSix family members affected either by MEN 2A (n=3) or MEN 2B (n=3) syndrome were identified through neonatal genetic screening.ResultsTotal 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.ConclusionBilateral 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.