J Korean Soc Endocrinol.  2005 Aug;20(4):375-380. 10.3803/jkes.2005.20.4.375.

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

• Kim YK
• Kim JW
• Ahn SM
• Song KE
• Jung SH
• Kim DJ
• Chung YS
• Lee KW
• Kim CH
• Hong JH
• Jeong SY
• Kim HJ

• KMID: 2100468
• DOI: http://doi.org/10.3803/jkes.2005.20.4.375

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.

MeSH Terms

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
Codon

Figure

• 

  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

• 

  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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