J Korean Med Sci.  2013 Jan;28(1):156-159. 10.3346/jkms.2013.28.1.156.

A Case of Medullary Thyroid Carcinoma with de novo V804M RET Germline Mutation

• Choi YS
• Kwon HJ
• Kim BK
• Kwon SK
• Park YH
• Kim JH
• Jung SB
• Lee CH
• Lee SK
• Uchino S

• KMID: 2158016
• DOI: http://doi.org/10.3346/jkms.2013.28.1.156

Abstract

Many cases of RET proto-oncogene mutations of hereditary medullary thyroid carcinoma (MTC) have been reported in Korea. However, MTC with V804M RET proto-oncogene germline mutations have not been reported in Korea. A 33-yr-old man was diagnosed with a 0.7-cm sized thyroid nodule. Laboratory testing revealed serum calcitonin was elevated. The patient underwent total thyroidectomy with central compartment neck dissection for the thyroid tumor. RET gene analysis was performed in both the index patient and his family. There were no V804M RET mutation and abnormal laboratory findings within his family except the index patient. Therefore, this patient was a de novo V804M RET germline mutation.

Keyword

Medullary Thyroid Carcinoma; RET Proto-oncogene; V804M RET Germline Mutation

MeSH Terms

Adult
Calcitonin/blood
Germ-Line Mutation
Humans
Male
Pedigree
Proto-Oncogene Proteins c-ret/*genetics
Sequence Analysis, DNA
Thyroid Neoplasms/*diagnosis/genetics/ultrasonography
Thyroidectomy
Calcitonin
Proto-Oncogene Proteins c-ret

Figure

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  Fig. 1 Transverse ultrasound image of thyroid nodules. (A) Ultrasound showing 0.6 cm nodule in index patient and (B) multiple 0.5 cm sized nodules in the index patient's mother.

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  Fig. 2 Direct sequence analysis of exon 14 of the RET gene. Genetic analysis of the index case revealed a missense GTG→ATG mutation at codon 804 in exon 14 of the RET proto-oncogene.

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  Fig. 3 Pedigree of the family showing the affected member (index patient). Circles and squares denote female and male family members, respectively.

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