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KMID : 0882420060700040448
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Korean Journal of Medicine
2006 Volume.70 No. 4 p.448 ~ p.454
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A family of multiple endocrine neoplasia type 2A associated with a C618R mutation in RET proto-oncogene
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김낭희/Kim NH
김주훈/남지현/박정필/박지은/최영식/박요한/Kim JH/Nam JH/Park JP/Park JE/Choi YS/Park YH
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Abstract
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Medullary thyroid carcinoma (MTC) is a relatively rare malignant thyroid disease that accounts for approximately 1% to 5% of all thyroid carcinomas. MTC occurs as a sporadic disease and as an inherited disease with the multiple endocrine neoplasia type 2A (MEN2A), MEN2B, and familial non-MEN medullary carcinoma (FMTC). MEN2A is characterized by MTC, pheochromocytoma, and parathyroid adenoma. The mutation of RET proto-oncogene plays an important role in MEN2A syndromes. Recently the authors diagnosed MEN2A patient and screened his family with thyroid ultrasonogram and RET proto-oncogene analysis. A genetic analysis of the peripheral leukocyte showed a codon 618 mutation (Cys618Arg) at exon 10 of the RET proto-oncogene in a family presenting third generations from age 7 to age 56 years. We report this case of MEN2A with a review of the related literatures.
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KEYWORD
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