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Analysis of RAS mutation and PAX8/PPARγ rearrangements in follicular-derived thyroid neoplasms in a Korean population: frequency and ultrasound findings

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Abstract

Objective

To investigate the frequency and ultrasonography (US) findings of RAS mutations and PAX8/PPARγ rearrangements between follicular thyroid adenomas (FTAs) and follicular thyroid carcinomas (FTCs) in a Korean population.

Methods

RAS mutations and PAX8/PPARγ rearrangements in 56 FTAs and 35 FTCs were analyzed. We also analyzed the US findings of FTCs and FTAs.

Results

16 nodules of 35 FTCs (45.7 %) and 19 nodules of 56 FTAs (33.9 %) harbored RAS mutations. Three FTCs and three FTAs showed two point mutations simultaneously. K-RAS codon 12–13 (n = 6, 31.6 %), N-RAS codon 61 (n = 5, 26.3 %), H-RAS codon 61 (n = 4, 21.1 %), K-RAS codon 61 (n = 3, 15.8 %), and N-RAS codon 12–13 (n = 1, 5.3 %) were found in FTCs, and N-RAS codon 61 (n = 10, 45 %), K-RAS codon 12–13 (n = 5, 22.7 %), H-RAS codon 61 (n = 5, 22.7 %), K-RAS codon 61 (n = 1, 4.5 %), and N-RAS codon 12–13 (n = 1, 4.5 %) were observed in FTAs. 4 of 56 (7.1 %) FTAs and 1 of 35 (2.9 %) FTCs represented PAX8/PPARγ rearrangements, respectively (P = 0.645). The absence of a hypoechoic rim (P = 0.021) and presence of calcifications (P = 0.049) were significantly associated with FTCs compared with FTAs.

Conclusions

RAS mutation frequency targeting the Korean population showed a 45.7 % in FTCs and 35.7 % in FTAs, and PAX8/PPARγ rearrangements were more frequently showed in FTAs. K-RAS codon 12–13 was the most common RAS mutation in FTCs, whereas N-RAS codon 61 was more frequent in FTAs. The presence of calcifications and absence of a hypoechoic rim showed more frequently in FTCs.

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Acknowledgments

This work was supported by the Soonchunhyang University Research Fund. We are grateful to Ji Sung Lee, PhD (Director, Biostatistical Consulting Unit at Soonchunhyang University Medical Center) for statistical analysis.

Conflict of interest

The authors declare that there is no conflict of interest.

Ethical approval

All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.

Informed consent

Informed consent of the present retrospective study was waived.

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Authors and Affiliations

  1. Department of Radiology, Soonchunhyang University Bucheon Hospital, 170 Jomaru-ro, Wonmi-gu, Bucheon, Gyeonggi-do, 420-767, Republic of Korea

    S. H. Jeong, H. S. Hong & E. H. Lee

  2. Department of Pathology, Soonchunhyang University Bucheon Hospital, Bucheon, Republic of Korea

    J. J. Kwak

Authors
  1. S. H. Jeong
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  2. H. S. Hong
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  3. J. J. Kwak
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  4. E. H. Lee
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Correspondence to H. S. Hong.

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Jeong, S.H., Hong, H.S., Kwak, J.J. et al. Analysis of RAS mutation and PAX8/PPARγ rearrangements in follicular-derived thyroid neoplasms in a Korean population: frequency and ultrasound findings. J Endocrinol Invest 38, 849–857 (2015). https://doi.org/10.1007/s40618-015-0311-x

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  • DOI: https://doi.org/10.1007/s40618-015-0311-x

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