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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
ABSTRACT
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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