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KMID : 0387820140210020163
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Clinical Pediatric Hematology-Oncology
2014 Volume.21 No. 2 p.163 ~ p.167
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Two Cases of Multiple Endocrine Neoplasia Type II with RET Mutaion
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Yoo Sun-Young
Choi Yi-Ho
Lee Min-Kyung
Kim Min-Sun
Hwang Pyoung-Han
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Abstract
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Multiple endocrine neoplasia type 2(MEN2) is a rare autosomal dominant inherited dis-order characterized by the presence of medullary thyroid carcinoma, pheochromocytoma and other hyperplasia and/or neoplasia of different endocrine tissues in a single patient. MEN 2 is caused by germline mutations in the RET proto-oncogene is located on the pericentromeric region of chromosome 10 (10q11.2). We present our experience with two rare cases of MEN 2, an 11-years-old girl and a 10-years-old boy. Their parents had medullary thyroid carcinoma and genetic analysis showed the missense mutation of RET. They were screened for mutations in the RET proto-oncogene and RET mutations were found at codons 634 and 641. They were asymptomatic state but the girl had pro-phylactic total thyroidectomy. Children of families with RET mutations may develop early cancers and require prophylactic thyroidectomy before eight years.
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KEYWORD
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Multiple endocrine neoplasia type 2(MEN 2), MEN2 mutation
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