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Early presentation of metastatic medullary carcinoma in multiple endocrine neoplasia, type IIA: implications for
J R Gill1, M Reyes-Múgica, S Iyengar
1Department of Pathology, Yale University School of Medicine, New Haven, Connecticut 06520-8023, USA.
Abstract:
A girl 5 years 11 months of age, belonging to an extensive kindred with multiple endocrine neoplasia, type IIA (MEN IIA), was found to have multifocal medullary thyroid carcinoma with metastasis in one paraglandular lymph node after positive findings on a calcium-pentagastrin stimulation test. Her sister, 3 years 8 months of age, also had an elevated calcitonin level, and thyroidectomy revealed C-cell hyperplasia and a focus of medullary thyroid carcinoma. These two cases underscore the need for prophylactic thyroidectomies in MEN IIA patients as young as 5 years of age and strict yearly provocative screening beginning at age 1 year.