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The Korean Journal of Medicine 2006;70(4): 448-454.
증례 : RET 원종양유전자의 돌연변이(C618R)를 동반한 제2A형 다발성 내분비 선종 가계
김낭희, Joo Hoon Kim, Ji Hyun Nam, Jung Pil Park, JI Eun Park, Young Sik Choi, Yo Han Park
Case Reports : A family of multiple endocrine neoplasia type 2A associated with a C618R mutation in RET proto-oncogene
Nang Hee Kim, Joo Hoon Kim, Ji Hyun Nam, Jung Pil Park, JI Eun Park, Young Sik Choi, Yo Han Park
한림의대 한강성심병원 내과
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.(Korean J Med 70:448-454, 2006) Key Words : Multiple endocrine neoplasia type 2A, RET proto-oncogene, Mutation
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