Endocrinol Metab > Volume 20(4); 2005 > Article
Journal of Korean Endocrine Society 2005;20(4):375-380.
DOI: https://doi.org/10.3803/jkes.2005.20.4.375    Published online August 1, 2005.
A Case of Familial Medullary Thyroid Carcinoma with a E768D Mutation in RET Proto-Oncogene.
Yeon Kyeong Kim, Jin Woo Kim, Sang Mi Ahn, Kyoung Eun Song, Sun Hye Jung, Dae Jung Kim, Yoon Sok Chung, Kwan Woo Lee, Chul Ho Kim, Ji Hee Hong, Seon Yong Jeong, Hyon Ju Kim
1Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Korea.
2Department of Otolaryngology, Ajou University School of Medicine, Suwon, Korea.
3Department of Medical Genetics, Ajou University School of Medicine, Suwon, Korea.
Abstract
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.
Key Words: Familial medullary thyroid carcinoma, RET proto-oncogene


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