Korean J Endocr Surg.  2010 Jun;10(2):93-98. 10.16956/kjes.2010.10.2.93.

Characteristics of the RET Oncogene Germline Mutations in Korean Medullary Thyroid Carcinoma: A Literature Review

• Sin DJ
• Min JW
• Chang MC

• KMID: 2375723
• DOI: http://doi.org/10.16956/kjes.2010.10.2.93

Abstract

PURPOSE
Germline mutation of the RET oncogene results in multiple endocrine neoplasia (MEN) types 2A and 2B and familial medullary thyroid cancer (FMTC). We reviewed the literature to determine the mutation patterns of the RET oncogene in Koreans with MEN-2A, 2B and FMTC.
METHODS
We retrieved the relevant literature using the PubMed (http://www.pubmed.org/) and KoreaMed (http://www.koreamed.org/) databases concerning the RET germline mutations in Korea from 1998 to 2010. We evaluated the pedigree of the patients to exclude the same, repeated families. We collected all the data on the types of mutations and the clinical syndromes.
RESULTS
There were 21 studies with a total of 25 families. In the patients with MEN-2A and FMTC, there were 14 mutations (56%) in codon 634, 6 mutations (24%) in codon 618, 2 mutations (8%) in codon 631 and one mutation (4%) in codon 768. In the patients with MEN-2B, there were 2 mutations (8%) in codon 918. D631Y is an extremely rare mutation, but two families with such a mutation existed in Korea. The frequency of codon 634 mutations in the patients with MEN-2A was relatively lower than that of the previously reports from western countries and the frequency of codon 618 mutations was relatively higher than that in the western countries.
CONCLUSION
This study shows there are hot spots and genotype- phenotype correlations for the RET oncogene mutations in Koreans.

Keyword

Medullary thyroid carcinoma; RET; Germline mutation

MeSH Terms

Codon
Germ-Line Mutation*
Humans
Korea
Multiple Endocrine Neoplasia
Oncogenes*
Pedigree
Phenotype
Thyroid Gland*
Thyroid Neoplasms*
Codon