Two Cases of Multiple Endocrine Neoplasia Type II with RET Mutaion / 임상소아혈액종양

ABSTRACT

Multiple endocrine neoplasia type 2(MEN2) is a rare autosomal dominant inherited disorder 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 prophylactic total thyroidectomy. Children of families with RET mutations may develop early cancers and require prophylactic thyroidectomy before eight years.