|
KMID : 1235920130050020092
|
|
Medical Journal of Catholoc University of Daegu
2013 Volume.5 No. 2 p.92 ~ p.96
|
|
|
A Case of Multiple Endocrine Neoplasia Type 2b Associated with a M918T Mutation in RET Proto-oncogene
|
|
Kim Ji- Hye
Lee Jong-Hoon
Kim Jin-Kyung
|
|
|
Abstract
|
|
|
Multiple endocrine neoplasia type 2b (MEN2b) is an autosomal dominant hereditary cancer syndrome caused by
mutations of the RET proto-oncogene. We report a case of 8-year-old boy with MEN2b. He had visible physical
stigmata such as cutaneous mucosal neuromas on the lips and tongue, and a Marfanoid habitus, and had suffered from
severe constipation for several years. Ultrasound of thyroid showed a 5 mm-sized hypoechoic nodule with irregular
margin, calcifications in left upper thyroid and enlarged lymph node. Fine needle aspiration revealed atypical cells
suggestive of a medullary carcinoma. The calcitonin level was 40.5 pg/mL (normal range, 0~9.9 pg/mL). Mutational
analysis revealed a missense mutation (M918T) in codon 918 of RET proto-oncogene. He underwent an operation for
total thyroidectomy.
|
|
|
KEYWORD
|
|
|
Multiple endocrine neoplasia type 2b , Medullary thyroid carcinoma , RET proto-oncogene
|
|
|
FullTexts / Linksout information
|
|
|
|
|
|
Listed journal information
|
|
|
|