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KMID : 0356620070220060453
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Journal of Korean Society of Endocrinology
2007 Volume.22 No. 6 p.453 ~ p.459
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A Family of Multiple Endocrine Neoplasia Type 2A with a C634R Mutation and a G691S Polymorphism in RET Proto-oncogene
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Yun Seung-Wook
Yoo Won-Sang
Hong Koo-Hyun
Kim Bae-Hwan
Kang Min-Ho
Choo Young-Kwang
Park Hee-Yoon
Kim Do-Hee
Chung Hyun-Kyung
Chang Myung-Chul
Kwon Mi-Sun
Kim Hee-Jin
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Abstract
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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. (J Kor Endocr Soc 22:453~459, 2007)
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KEYWORD
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multiple endocrine neoplasia type 2A, polymorphism, RET proto-oncogene
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