A Case of Familial Medullary Thyroid Carcinoma with a E768D Mutation in RET Proto-Oncogene.
10.3803/jkes.2005.20.4.375
- Author:
Yeon Kyeong KIM
1
;
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
Author Information
1. Department of Endocrinology and Metabolism, Ajou University School of Medicine, Suwon, Korea.
- Publication Type:Case Report
- Keywords:
Familial medullary thyroid carcinoma;
RET proto-oncogene
- MeSH:
Adult;
Carcinoma, Medullary;
Codon;
Exons;
Genetic Diseases, Inborn;
Germ-Line Mutation;
Humans;
Multiple Endocrine Neoplasia;
Neck Dissection;
Proto-Oncogenes*;
Siblings;
Thyroid Gland*;
Thyroid Neoplasms*;
Thyroidectomy
- From:Journal of Korean Society of Endocrinology
2005;20(4):375-380
- CountryRepublic of Korea
- Language:Korean
-
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.
