A Case of Familial Medullary Thyroid Carcinoma with a E768D Mutation in RET Proto-Oncogene
RET 원종양유전자 돌연변이(E768D)가 확인된 가족성 갑상선 수질암 1예
김, 연경; 김, 진우; 안, 상미; 송, 경은; 정, 선혜; 김, 대중; 정, 윤석; 이, 관우; 김, 철호; 홍, 지희; 정, 선용
Journal of Korean Society of Endocrinology, 20(4):375-380, 2005
Journal of Korean Society of Endocrinology; 대한내분비학회지
A medullary thyroid carcinoma, a neoplasm of parafollicular C cell origin, occurs as a sporadic or hereditary disease. A hereditary medullary thyroid carcinoma is an autosomal dominantly inherited disease, which is composed of multiple endocrine neoplasia 2A and 2B, with a familial medullary thyroid carcinoma. Germline mutations of the RET gene are the underlying cause of the majority of hereditary medullary carcinomas. Here, the case of a 42 years-old man with a familial medullary thyroid carcinoma, confirmed by the detection of a RET proto-oncogene mutation at exon 13 on codon 768 from a GAG(Glu) to a GAT(Asp), is described. The patient underwent a total thyroidectomy and modified radical neck dissection. His sister was found to have the same mutant gene.
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