RET Proto-Oncogene Mutation in Medullary Thyroid Carcinoma |
Woong Youn Chung;Hyeun Jung Song;Nam Hoon Cho;Cheong Soo Park |
갑상선 수질암 조직에서 RET 원암유전자의 돌연변이 양상 |
정웅윤;송현정;조남훈;박정수 |
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Abstract |
Background: The molecular pathogenesis of hereditary medullary thyroid carcinoma is well known to be associated with germ-line mutation in the RET proto-oncogene and sporadic medullary thyroid carcinoma has been shown to carry somatic RET mutation especially in exon 13 and 16. The aim of this study is to evaluate the genetic background in the pathogenesis of the sporadic medullary thyroid carcinoma which shows extremely high incidence in Korea.
Materials and Methods: Direct DNA sequencing for RET exon 13 and 16, as well as immunohistochemistrical assay for a monoclonal RET antibody were performed from 20 cases of archival tissues of medullary thyroid carcinoma.
Results Monoclonal RET antibody with C-terminal epitope showed comparatively stronger expression in tumor cells than in normal tissues and immunoreactive area in the tumor was 66.0±40.1. Direct sequencing of RET exon 13 revealed 4 cases of mis-sense mutations in Codon 778, Codon 767, and both in Codon 768 and 778. One case showed a silent mutation (ACG-ACT) in RET exon 16 (Codon 926).
Conclusions The strong RET immunoreactivity of medullary thyroid carcinoma may suggest that there could be a genetic alteration in oncoprotein level. RET proto-oncogene mutation may be involved in the evolutional process of medullary thyroid carcinoma in the aspect of molecular basis. |
Key Words:
Medullary thyroid carcinoma, RET proto-oncogene, Immunohistochemistrical assay, Direct DNA sequencing |
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