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Genetic profiles of aggressive variants of Papillary thyroid carcinomas

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Abstract
Aggressive variants of papillary thyroid carcinoma (PTC) have been described with in-creasing frequency and are associated with unfavorable clinical outcomes. However, limited data exist on the comprehensive genetic profile of these variants. We performed targeted next-generation sequencing in 36 patients with aggressive variants of PTC and compared it to PTC from The Cancer Genome Atlas (TCGA) project and poorly differentiated thyroid cancers (PDTCs)/anaplastic thyroid cancers (ATCs) from the Memorial Sloan Kettering Cancer Center (MSKCC). BRAF mutation was the most prevalent (89%) in aggressive variants of PTC compared to that in other thyroid can-cers. RAS mutation was identified in one patient (3%), which was less frequent than in others. TERT promoter mutation (17%) ranged between that of PTCs (9%) and PDTCs (40%). Tumor suppressor genes, ZFHX3, TP53, and CHEK2, were mutated in 14%, 3%, and 6% of aggressive variants of PTC, respectively. The mutation rate of TP53 (3%) was significantly higher than that of PTCs (0.7%) and lower than that of ATCs (73%). Mutations in three functional groups, histone methyl transferases, SWI/SNF chromatin remodeling complex, and the PI3K/AKT/mTOR pathway, were present in 11%, 14%, and 11% of samples, respectively. In conclusion, aggressive variants of PTC had higher BRAF and lower NRAS mutation prevalence than other thyroid cancers. The prevalence of mutations in the TERT promoter, TP53, and genes encoding three functional groups ranged between that of PTCs and PDTCs/ATCs.
Author(s)
김미화송동은안종화송의연이유미성태연김태용김원배송영기전민지김원구
Issued Date
2021
Type
Article
Keyword
aggressive variantscolumnar cell variantgenetic profilenext-generation sequencingpapillary thyroid carcinomatall cell variant
DOI
10.3390/cancers13040892
URI
https://oak.ulsan.ac.kr/handle/2021.oak/6991
https://ulsan-primo.hosted.exlibrisgroup.com/primo-explore/fulldisplay?docid=TN_cdi_doaj_primary_oai_doaj_org_article_2299a0ace906443c80db83676a2ce60b&context=PC&vid=ULSAN&lang=ko_KR&search_scope=default_scope&adaptor=primo_central_multiple_fe&tab=default_tab&query=any,contains,Genetic%20profiles%20of%20aggressive%20variants%20of%20Papillary%20thyroid%20carcinomas&offset=0
Publisher
Cancers
Location
스위스
Language
영어
ISSN
2072-6694
Citation Volume
13
Citation Number
4
Citation Start Page
1
Citation End Page
11
Appears in Collections:
Medicine > Medicine
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