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Kim, Kim, Ahn, Song, Jung, Kim, Chung, Lee, Kim, Hong, Jeong, and Kim: A Case of Familial Medullary Thyroid Carcinoma with a E768D Mutation in RET Proto-Oncogene
Case Report
Journal of Korean Society of Endocrinology

Journal of Korean Society of Endocrinology 2005; 20(4): 375-380.

Published online: 31 August 2005

DOI: https://doi.org/10.3803/jkes.2005.20.4.375

A Case of Familial Medullary Thyroid Carcinoma with a E768D Mutation in RET Proto-Oncogene

Yeon Kyeong Kim1, Jin Woo Kim1, Sang Mi Ahn1, Kyoung Eun Song1, Sun Hye Jung1, Dae Jung Kim1, Yoon-Sok Chung1, Kwan Woo Lee1, Chul Ho Kim2, Ji Hee Hong3, Seon Yong Jeong3, Hyon Ju Kim3

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.

Received 6 May 2005       Accepted 23 May 2005

Copyright © 2005 Korean Endocrine Society

Abstract

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.

Keywords: Familial medullary thyroid carcinoma, RET proto-oncogene

Figures and Tables

Fig. 1
The pedigree of investigated family
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Fig. 2
Thyroid ultrasonography; (A) 1×1 cm sized hypoechoic lesion in Rt gland, (B) 2.6×2.7×3.6 cm sized hypoehoic lesion with internal calcification in Lt gland. Neck CT; (C) Multiple lymph node metastasis in Lt level III
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Fig. 3
RET proto-oncogene mutation in the patient; N indicates the G>T change in the mutant allele
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Fig. 4
Microscopic finding of medullary thyroid carcinoma; (A) H&E stain (×100), (B) Congo red stain; positive and yellow-green birefringency for amyloid (×100) (C) The tumor cells are stained by anti-calcitonin antibody (×100).
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Table 1
Distribution of RET Proto-Oncogene Mutations in Korean MEN Patients
jkse-20-375-i001

References

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