Journal of Clinical Otolaryngology Head and Neck Surgery
The Busan, Ulsan, Gyeoungnam Branch of Korean Society of Otolaryngology-Head and Neck Surgery
원저

제2B형 다발성 내분비 선종에 대한 RET 유전자의 점돌연변이 분석

김성원1, 이봉주1, 김주연1, 이강대1,*, 이병주2, 김인주3
Sung Won Kim1, Bong Ju Lee1, Joo Yeun Kim1, Kang Dae Lee1,*, Byung Joo Lee2, In Ju Kim3
1고신대학교 의과대학 이비인후-두경부외과학교실
2부산대학교 의학전문 대학원 이비인후과학교실
3내과학교실
1Department of Otolaryngology-Head and Neck Surgery, Kosin University College of Medicine, Busan, Korea
2Department of Otolaryngology, Pusan National University College of Medicine, Busan, Korea
3Internal Medicine, Pusan National University College of Medicine, Busan, Korea
*교신저자: 이강대, 602-702 부산광역시 서구 암남동 34 고신대학교 의과대학 이비인후-두경부외과학교실 전화: (051) 990-6470·전송: (051) 245-8539 E-mail: kdlee@ns.kosinmed.or.kr

© Copyright 2007 The Busan, Ulsan, Gyeoungnam Branch of Korean Society of Otolaryngology-Head and Neck Surgery. This is an Open-Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Received: Apr 03, 2007; Accepted: May 11, 2007

Published Online: May 31, 2020

ABSTRACT

Background and Objective: Multiple Endocrine Neoplasia type 2B (MEN 2B) is a syndrome associated with medullary thyroid carcinoma, pheochromocytoma, ganglioneuromatosis, marfanoid features and skeletal abnormalities. Since MEN 2B is an autosomal dominant disorder, early detection and treatment is crucial. Genetic analysis of RET proto-oncogene in a patient diagnosed as MEN 2B is reported. Materials and Method: A patient diagnosed as MEN 2B was studied at the department of Otolaryngology-Head and Neck Surgery at a tertiary hospital in 1992. Initially, DNA was extracted from the peripheral blood leukocyte of the patient and PCR amplification of exons 10, 11, 13, 14, 15, 16 was performed, followed by investigation of point mutation on RET proto-oncogene using DNA sequence analyzer. Results: The automatic DNA sequence analyzing method revealed normal findings at exon 10, 11, 13, 14, 15 while point mutation of ATG (Met) to ACG (Thr) at codon 918 of exon 16 at RET proto-oncogene. Conclusion: The author could identify the point mutation in a patient with MEN 2B by performing a genetic analysis of RET proto-oncogene. Although MEN 2B may be extremely rare it shows the worst prognosis and is inherited. Thus, the result of this study showing the mutations in this disease may be useful for genetic councelling. With genetic analysis of RET proto-oncogene, limitations of the conventional calcitonin stimulation test may be overcome. Moreover, the approach could be more ultimate and comprehensive through early diagnosis by carrying out this screening test for point mutations in the family members of the patient with MEN 2B. (J Clinical Otolaryngol 2007;18:79–85)

Keywords: 제2형 다발성 내분비 선종; 갑상선 수질암; RET 원종양 유전자; 점돌연변이
Keywords: MEN 2B; Medullary thyroid carcinoma; RET proto-oncogene; Point mutation