KMID : 0356620120270010045
|
|
Journal of Korean Society of Endocrinology 2012 Volume.27 No. 1 p.45 ~ p.53
|
|
Frequency of RAS Mutations and PAX8/PPAR¥ã Rearrangement in Follicular Thyroid Tumors in Korea
|
|
Kim Hye-Jeong
Jang Hye-Won Sohn Seo-Young Choi Yoon-La Kim Hee-Jin Oh Young-Lyun Kim Sun-Wook Chung Jae-Hoon
|
|
Abstract
|
|
|
Background: Follicular thyroid tumors harbor several genetic alterations such as RAS mutations and PAX8/PPAR¥ã rearrangement. The aims of our study were to investigate the prevalence of RAS mutations and PAX8/PPAR¥ã rearrangement in follicular thyroid tumors and to correlate RAS mutations and/or PAX8/PPAR¥ã rearrangement with clinicopathologic features in Korean patients with follicular thyroid carcinomas.
Methods: RAS mutations were investigated by polymerase chain reaction and DNA sequencing in surgical specimens of 37 follicular thyroid carcinomas (FTCs) and 16 follicular thyroid adenomas (FTAs). PAX8/PPAR¥ã rearrangement was analyzed by fluorescent in situ hybridization in surgical specimens of 31 FTCs and 13 FTAs.
Results: RAS mutations were detected in 30% (11 of 37) of FTCs and 19% (three of 16) of FTAs. Three of 11 FTC patients with RAS mutations died of thyroid cancer, but none of the 26 FTC patients without RAS mutations. PAX8/PPAR¥ã rearrangement was found in 10% (three of 31) of FTCs, but in none of the 13 FTAs. All three FTC patients with PAX8/PPAR¥ã rearrangement remained in complete remission during follow-up. There were no FTC patients with both RAS mutations and PAX8/PPAR¥ã rearrangement.
Conclusion: The prevalence of RAS mutations in our series of follicular tumors was similar to previous studies. The frequency of PAX8/PPAR¥ã rearrangements in our group of FTC was lower than previous western reports, but higher than Japanese reports. RAS mutations may be associated with hematogeneous metastasis and poor survival while PAX8/PPAR¥ã rearrangement may be related to more favorable prognosis in Korean patients with FTCs.
|
|
KEYWORD
|
|
Mutations, PAX8-PPARgamma fusion protein, Ras, Follicular thyroid cancer
|
|
FullTexts / Linksout information
|
|
|
|
Listed journal information
|
|
|