J Korean Endocr Soc.  2009 Dec;24(4):293-297. 10.3803/jkes.2009.24.4.293.

A Case of Sporadic Medullary Thyroid Cancer with RET G691S Polymorphism

• Kang MK
• Lee JM
• Kim JH
• Lee MY
• Kim JH
• Moon SD
• Han JH
• Chang SA

• KMID: 1468551
• DOI: http://doi.org/10.3803/jkes.2009.24.4.293

Abstract

Sporadic medullary thyroid carcinoma (MTC) is the most common form of MTC and somatic RET proto-oncogene mutations account for approximately 25% of the patients with sporadic MTC. However, other pathogeneses of sporadic MTC are still unclear. Not only RET mutation, but also polymorphisms of RET may have an association with sporadic MTC. We herein describe the association of MTC and RET proto-oncogene polymorphism. A 51-year-old man was diagnosed with MTC, which was incidentally found on a thyroid sonogram. The patient underwent total thyroidectomy and genetic mutational analysis of the RET gene. Genetic testing detected a polymorphism in codon 691 (G691S) on exon 11 of the RET proto-oncogene. His son and daughter had the same polymorphism. We report on this case along with a review of the related literature on RET gene polymorphism of sporadic MTC.

Keyword

polymorphism; RET proto-oncogene; sporadic medullary thyroid carcinoma

MeSH Terms

Codon
Exons
Genetic Testing
Humans
Middle Aged
Nuclear Family
Proto-Oncogenes
Thyroid Gland
Thyroid Neoplasms
Thyroidectomy
Codon

Figure

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  Fig. 1 Ultrasonogram shows 1.7 × 1.3 cm-sized dense calcified nodular lesion on left thyroid gland (A) and another 0.9 cm nodule found on lateral part of neck (B).

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  Fig. 2 Neck computed tomography shows a dense calcified nodule in thyroid (A) and enlarged lymph nodes (B).

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  Fig. 3 Immunohistochemical stain of the medullary thyroid carcinoma (Calcitonin stain ×400). The tumor cells are stained with calcitonin.

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  Fig. 4 RET proto-oncogene testing detected a polymorphism in codon 691 (G691S) on exon 11 of the RET proto-oncogene.

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  Fig. 5 The patient's pedigree shows 3 members with a polymorphism in codon 691 (G691S) of the RET proto-oncogene. The other members were not tested for the polymorphism. Arrow indicates proband.

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