Endocrinol Metab > Volume 24(4); 2009 > Article
Journal of Korean Endocrine Society 2009;24(4):293-297.
DOI: https://doi.org/10.3803/jkes.2009.24.4.293    Published online December 1, 2009.
A Case of Sporadic Medullary Thyroid Cancer with RET G691S Polymorphism.
Min Kyu Kang, Jung Min Lee, Ji Hyun Kim, Min Young Lee, Ji Hyun Kim, Sung Dae Moon, Je Ho Han, Sang Ah Chang
Department of Internal Medicine, The Catholic University of Korea, College of Medicine, Seoul, Korea.
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.
Key Words: polymorphism, RET proto-oncogene, sporadic medullary thyroid carcinoma

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