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RET proto-oncogene를 이용한 다발성 내분비 종양제 2B형의 조기진단으로 예방적 갑상선 절제술을 시행한 2례

Other Titles
 Two Cases of Multiple Endocrine Neoplasia Type 2B, Early Diagnosis by Genetic Analysis and Prophylactic Total Thyroidectomy 
Authors
 Hwa Young Lee  ;  Ah Reum Kwon  ;  Hyun Wook Chae  ;  Ho Seong Kim  ;  Duk Hee Kim 
Citation
 Journal of Korean Society of Pediatric Endocrinology (대한소아내분비학회지), Vol.15(2) : 138-144, 2010 
Journal Title
 Journal of Korean Society of Pediatric Endocrinology (대한소아내분비학회지) 
ISSN
 1226-2242 
Issue Date
2010
Keywords
Multiple endocrine neoplasia type 2b ; Proto-oncogene proteins c-ret
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
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Appears in Collections:
1. College of Medicine (의과대학) > Dept. of Pediatrics (소아청소년과학교실) > 1. Journal Papers
Yonsei Authors
Kwon, Ah Reum(권아름) ORCID logo https://orcid.org/0000-0002-9692-2135
Kim, Duk Hee(김덕희)
Kim, Ho Seong(김호성) ORCID logo https://orcid.org/0000-0003-1135-099X
Chae, Hyun Wook(채현욱) ORCID logo https://orcid.org/0000-0001-5016-8539
URI
https://ir.ymlib.yonsei.ac.kr/handle/22282913/102426
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