Case Report

J Korean Soc Pediatr Endocrinol. 2006; 11(1): 104-109.

A Case of Multiple Endocrine Neoplasia Type 2B early Diagnosis by RET Proto-oncogene Analysis and Prophylactic Total Thyroidectomy.

Bum Sik Kim, Young Jun Rhie, Hong Koh, Duk Hee Kim, and Seung Hoon Choi

¹Department of Pediatrics, Instituite of Endocrinology, College of Medicine, Yonsei University, Seoul, Korea. dhkim@yumc.yonsei.ac.kr
²Department of Surgery, Instituite of Endocrinology, College of Medicine, Yonsei University, Seoul, Korea.

Multiple endocrine neoplasia type 2B (MEN 2B) is a rare autosomal-dominant hereditary syndrome which includes medullary thyroid carcinoma (MTC), pheochoromocytoma, multiple ganglioneuromas, gastrointestinal disorders and marfanoid face. MTC is the main cause of death in patients that have not received early and prophylactic treatment. Clinically useful direct DNA tests have recently been available to identify gene carriers before any clinical or biochemical abnormalities are present. Prophylactic total thyroidectomy is recommended to affected children at an early stage of the disease to prevent the development of metastases of MTC. We report a case of MEN 2B patient who was diagnosed by RET proto-oncogene analysis and performed prophylactic total thyroidectomy.

Keywords : Multiple endocrine neoplasia, Medullary thyroid carcinoma, RET proto-oncogene, Prophylactic thyroidectomy