Background: Whilst thyroid carcinoma is rare in children, thyroid nodules in children have an increased risk of being malignant. Two 10-year-old patients with thyroid nodules presented to the Royal Belfast Hospital for Sick Children in December 2013.
Objective and hypotheses: Illustration of sporadic and genetic presentations of thyroid carcinoma in children.
Method: Presentation of two cases of thyroid carcinoma in children.
Results: The first case is a previously well 10-year-old girl who presented with a firm, asymmetrical nodular goitre. Ultrasound scan showed an enlarged, abnormal thyroid with multiple abnormal lymph nodes. Fine needle aspiration stained positive for TTF1 and CK19 but negative for calcitonin in keeping with papillary thyroid carcinoma. She proceeded to total thyroidectomy and bilateral cervical lymph node dissection. On histology, tracheal margin was positive and 18 of 66 lymph nodes were positive. She is currently awaiting radioactive iodine treatment. The second case is a 10-year-old boy who presented to ophthamology with painful eyes. He was found to have limbic hyperplasia and other features in keeping with multiple endocrine neoplasia type 2B (MEN2B). No family history of note. Ultrasound scan of neck revealed suspicious solid nodules within both lobes of the thyroid and extensive cervical lymphadenopathy. Ultrasound scan of liver was normal, calcitonin markedly elevated and catecholamines normal. He proceeded to total thyroidectomy and bilateral cervical lymph node dissection. On histology, confirmed to be thyroid medullary carcinoma with positive margins and 26 of 60 lymph nodes positive. On genetic testing, a missense mutation in RET gene demonstrated (exon 16, c.2753T>C, codon 918), confirming a diagnosis of MEN2B.
Conclusion: These two cases clearly illustrate both sporadic and genetic presentations of thyroid carcinoma in children and that genetic cases can arise de novo.
20 - 22 Sep 2014
European Society for Paediatric Endocrinology