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A Case of Multiple Endocrine Neoplasia Type 2B early Diagnosis by RET Proto-oncogene Analysis and Proplactic TotalThyroidetomy

Authors
 Bum Sik Kim  ;  Young Jun Rhie  ;  Hong Koh  ;  Duk Hee Kim  ;  Seung Hoon Choi 
Citation
 Journal of Korean Society of Pediatric Endocrinology (대한소아내분비학회지), Vol.11(1) : 104-109, 2006 
Journal Title
 Journal of Korean Society of Pediatric Endocrinology (대한소아내분비학회지) 
ISSN
 1226-2242 
Issue Date
2006
Keywords
Multiple endocrine neoplasia ; Medullary thyroid carcinoma ; RET proto-oncogene ; Prophylactic thyroidectomy
Abstract
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.
Files in This Item:
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Internal Medicine (내과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아과학교실) > 1. Journal Papers
1. College of Medicine (의과대학) > Dept. of Surgery (외과학교실) > 1. Journal Papers
Yonsei Authors
Koh, Hong(고홍) ORCID logo https://orcid.org/0000-0002-3660-7483
Kim, Duk Hee(김덕희)
Rhie, Young Jun(이영준)
Choi, Seung Hoon(최승훈)
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/109470
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