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Ann Pediatr Endocrinol Metab > Volume 15(2); 2010 > Article
Two Cases of Multiple Endocrine Neoplasia Type 2B, Early Diagnosis by Genetic Analysis and Prophylactic Total Thyroidectomy.
Hwa Young Lee, Ah Reum Kwon, Hyun Wook Chae, Ho Seong Kim, Duk Hee Kim
Department of Pediatrics, Severance Children's Hospital, Yonsei University College of Medicine, Seoul, Korea. dhkim3@yuhs.ac
Abstract
Multiple endocrine neoplasia (MEN) 2B is charaterized by tumors of endocrine glands, consisting of medullary thyroid carcinoma (MTC), pheochromocytoma and mucosal neuromas of the tongue, lips and other sites. Especially, MTC is the main cause of death in patients who have not received early prophylactic treatment, and MTC in MEN 2B represents more aggressive progress than that of MEN 2A. We encountered two cases of multiple endocrine neoplasia type 2B. One was a 13 month old boy who had familial history of MEN 2B without any symptoms, and the other was a 6-year old boy who manifested multiple mucosal neuromas of the tongue which had been aggravated in four months. Their genetic analysis revealed a point mutation 918th cordon in the RET proto-oncogene. Both of them underwent an operation for prophylactic total thyroidectomy and the 6 year old boy's specimen turned out to be thyroid medullary carcinoma. We encountered two cases of MEN 2B with prophylactic thyroidectomy by early diagnosis of RET proto-oncogene, and report the cases with review of literature.
Keywords: Multiple endocrine neoplasia type 2b;Proto-oncogene proteins c-ret


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