Endocrinol Metab > Volume 22(6); 2007 > Article
Journal of Korean Endocrine Society 2007;22(6):453-459.
DOI: https://doi.org/10.3803/jkes.2007.22.6.453    Published online December 1, 2007.
A Family of Multiple Endocrine Neoplasia Type 2A with a C634R Mutation and a G691S Polymorphism in RET Proto-oncogene.
Seoung Wook Yun, Won Sang Yoo, Koo Hyun Hong, Bae Hwan Kim, Min Ho Kang, Young Kwang Choo, Hee Yoon Park, Do Hee Kim, Hyun Kyung Chung, Myung Chul Chang, Mi Seon Kwon, Hee Jin Kim
1Department of Internal Medicine, College of Medicine, Dankook University, Korea.
2Department of Surgery, College of Medicine, Dankook University, Korea.
3Department of Pathology, College of Medicine, Dankook University, Korea.
Abstract
Multiple endocrine neoplasia type 2A (MEN2A) is an autosomal dominant syndrome characterized by the presence of a medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism. MEN2A arises due to germline missense mutations of the RET proto-oncogene. Specific RET mutations correlate with the onset of age and the aggressiveness of a medullary thyroid carcinoma. However, the clinical presentation varies even within families, where patients carry the same mutation. Recently, it has been reported that polymorphisms of RET may have a modifier effect on the presentation. We experienced a case of 42-year-old man, whose bilateral pheochromocytoma and medullary thyroid carcinoma were incidentally found. Genetic testing detected a mutation in codon 634 (C634R) and a polymorphism in codon 691 (G691S) of the RET proto-oncogene. His mother, younger brother and his only son had the same mutation and polymorphism. We report this case with a review of the literature about RET gene polymorphisms.
Key Words: multiple endocrine neoplasia type 2A, polymorphism, RET proto-oncogene


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