Journal List > J Korean Soc Endocrinol > v.20(4) > 1063802

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

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.

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
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References

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