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Molecular Profiling of Papillary Thyroid Carcinoma in Korea with a High Prevalence of BRAFV600E Mutation.
Thyroid. 2017 06; 27(6):802-810.T

Abstract

BACKGROUND

The BRAFV600E mutation in papillary thyroid carcinoma (PTC) is particularly prevalent in Korea, and a considerable number of wild-type BRAF PTCs harbor RAS mutations. In addition, subsets of other genetic alterations clearly exist, but their prevalence in the Korean population has not been well studied. Recent increased insight into noninvasive encapsulated follicular variant PTC has prompted endocrine pathologists to reclassify this entity as "noninvasive follicular thyroid neoplasm with papillary-like nuclear features" (NIFTP). This study analyzed the genetic alterations among the histologic variants of PTC, including NIFTP.

METHODS

Mutations of the BRAF and RAS genes and rearrangement of the RET/PTC1, NTRK1, and ALK genes using 769 preoperative fine-needle aspiration specimens and resected PTCs were analyzed.

RESULTS

Molecular alterations were found in 687 (89.3%) of 769 PTCs. BRAFV600E mutation (80.8%) was the most frequent alteration, followed by RAS mutation and RET/PTC1, NTRK1, and ALK rearrangements (5.6%, 2.1%, 0.4%, and 0%, respectively). The low prevalence of NTRK1 fusions and the absence of an ALK fusion detected in Korea may also be attributed to the higher prevalence of the BRAFV600E mutation. There were significant differences in the frequency of the genetic alterations among the histologic variants of PTC. The prevalence of NIFTP in PTC was 2.7%, and among the NIFTPs, 28.6% and 57.1% harbored BRAF and RAS mutations, respectively. Clinicopathologic factors and mutational profiles between NIFTP and encapsulated follicular variant PTC with capsular invasion group were not significantly different.

CONCLUSIONS

Genetic alterations in PTC vary among its different histologic variants and seem to be different in each ethnic group.

Authors+Show Affiliations

1 Department of Pathology, Konkuk University School of Medicine , Seoul, Korea.1 Department of Pathology, Konkuk University School of Medicine , Seoul, Korea.2 Department of Pathology and Translational genomics, Samsung Medical Center, Sungkyunkwan University School of Medicine , Seoul, Korea.1 Department of Pathology, Konkuk University School of Medicine , Seoul, Korea.1 Department of Pathology, Konkuk University School of Medicine , Seoul, Korea.1 Department of Pathology, Konkuk University School of Medicine , Seoul, Korea.1 Department of Pathology, Konkuk University School of Medicine , Seoul, Korea.3 Department of Surgery, Konkuk University School of Medicine , Seoul, Korea.4 Department of Internal Medicine, Konkuk University School of Medicine , Seoul, Korea.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

28293988

Citation

Lee, Seung Eun, et al. "Molecular Profiling of Papillary Thyroid Carcinoma in Korea With a High Prevalence of BRAFV600E Mutation." Thyroid : Official Journal of the American Thyroid Association, vol. 27, no. 6, 2017, pp. 802-810.
Lee SE, Hwang TS, Choi YL, et al. Molecular Profiling of Papillary Thyroid Carcinoma in Korea with a High Prevalence of BRAFV600E Mutation. Thyroid. 2017;27(6):802-810.
Lee, S. E., Hwang, T. S., Choi, Y. L., Kim, W. Y., Han, H. S., Lim, S. D., Kim, W. S., Yoo, Y. B., & Kim, S. K. (2017). Molecular Profiling of Papillary Thyroid Carcinoma in Korea with a High Prevalence of BRAFV600E Mutation. Thyroid : Official Journal of the American Thyroid Association, 27(6), 802-810. https://doi.org/10.1089/thy.2016.0547
Lee SE, et al. Molecular Profiling of Papillary Thyroid Carcinoma in Korea With a High Prevalence of BRAFV600E Mutation. Thyroid. 2017;27(6):802-810. PubMed PMID: 28293988.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Molecular Profiling of Papillary Thyroid Carcinoma in Korea with a High Prevalence of BRAFV600E Mutation. AU - Lee,Seung Eun, AU - Hwang,Tae Sook, AU - Choi,Yoon-La, AU - Kim,Wook Youn, AU - Han,Hye Seung, AU - Lim,So Dug, AU - Kim,Wan-Seop, AU - Yoo,Young Bum, AU - Kim,Suk Kyeong, Y1 - 2017/04/21/ PY - 2017/3/16/pubmed PY - 2018/5/10/medline PY - 2017/3/16/entrez KW - BRAFV600E mutation KW - genetic alterations KW - papillary thyroid carcinoma SP - 802 EP - 810 JF - Thyroid : official journal of the American Thyroid Association JO - Thyroid VL - 27 IS - 6 N2 - BACKGROUND: The BRAFV600E mutation in papillary thyroid carcinoma (PTC) is particularly prevalent in Korea, and a considerable number of wild-type BRAF PTCs harbor RAS mutations. In addition, subsets of other genetic alterations clearly exist, but their prevalence in the Korean population has not been well studied. Recent increased insight into noninvasive encapsulated follicular variant PTC has prompted endocrine pathologists to reclassify this entity as "noninvasive follicular thyroid neoplasm with papillary-like nuclear features" (NIFTP). This study analyzed the genetic alterations among the histologic variants of PTC, including NIFTP. METHODS: Mutations of the BRAF and RAS genes and rearrangement of the RET/PTC1, NTRK1, and ALK genes using 769 preoperative fine-needle aspiration specimens and resected PTCs were analyzed. RESULTS: Molecular alterations were found in 687 (89.3%) of 769 PTCs. BRAFV600E mutation (80.8%) was the most frequent alteration, followed by RAS mutation and RET/PTC1, NTRK1, and ALK rearrangements (5.6%, 2.1%, 0.4%, and 0%, respectively). The low prevalence of NTRK1 fusions and the absence of an ALK fusion detected in Korea may also be attributed to the higher prevalence of the BRAFV600E mutation. There were significant differences in the frequency of the genetic alterations among the histologic variants of PTC. The prevalence of NIFTP in PTC was 2.7%, and among the NIFTPs, 28.6% and 57.1% harbored BRAF and RAS mutations, respectively. Clinicopathologic factors and mutational profiles between NIFTP and encapsulated follicular variant PTC with capsular invasion group were not significantly different. CONCLUSIONS: Genetic alterations in PTC vary among its different histologic variants and seem to be different in each ethnic group. SN - 1557-9077 UR - https://www.unboundmedicine.com/medline/citation/28293988/Molecular_Profiling_of_Papillary_Thyroid_Carcinoma_in_Korea_with_a_High_Prevalence_of_BRAFV600E_Mutation_ L2 - https://www.liebertpub.com/doi/full/10.1089/thy.2016.0547?url_ver=Z39.88-2003&rfr_id=ori:rid:crossref.org&rfr_dat=cr_pub=pubmed DB - PRIME DP - Unbound Medicine ER -