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http://ir.nhri.org.tw/handle/3990099045/15096
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| Title: | A shift in molecular drivers of papillary thyroid carcinoma following the 2017 WHO classification: Characterization of 554 consecutive tumors with emphasis on BRAF-Negative cases |
| Authors: | Hang, JF;Chen, JY;Kuo, PC;Lai, HF;Lee, TL;Tai, SK;Kuo, CS;Chen, HS;Li, WS;Li, CF |
| Contributors: | National Institute of Cancer Research |
| Abstract: | Most studies for comprehensive molecular profiling of papillary thyroid carcinoma (PTC) have been performed before the 2017 WHO classification, in which the diagnostic criteria of follicular variant of PTC have been modified and noninvasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) has been introduced. This study aims to investigate the shift in the incidence of BRAF V600E mutation in PTCs following the 2017 WHO classification and to further characterize the histologic subtypes and molecular drivers in BRAF-negative cases. The study cohort consisted of 554 consecutive PTCs larger than 0.5 cm between January 2019 and May 2022. Immunohistochemistry for BRAF VE1 was performed for all cases. Compared to a historical cohort of 509 PTCs from November 2013 to April 2018, the incidence of BRAF V600E mutation was significantly higher in the study cohort (86.8% versus 78.8%, P = 0.0006). Targeted RNA-based next-generation sequencing (NGS) using FusionPlex Pan Solid Tumor v2 panel was performed for BRAF-negative PTCs from the study cohort. Eight cribriform-morular thyroid carcinomas and three cases with suboptimal RNA quality were excluded from NGS. A total of 62 BRAF-negative PTCs were successfully sequenced, including 19 classic follicular predominant PTCs, 16 classic PTCs, 14 infiltrative follicular PTCs, seven encapsulated follicular PTCs, three diffuse sclerosing PTCs, one tall cell PTC, one solid PTC, and one diffuse follicular PTC. Among them, RET fusions were identified in 25 cases, NTRK3 fusions in 13, BRAF fusion in five including a novel TNS1::BRAF fusion, NRAS Q61R in three, KRAS Q61K in two, NTRK1 fusion in two, ALK fusion in one, FGFR1 fusion in one, and HRAS Q61R in one. No genetic variants, from our commercially employed assay, were detected in the remaining nine cases. In summary, the incidence of BRAF V600E mutation in PTCs significantly increased from 78.8% to 86.8% in our post-2017 WHO classification cohort. RAS mutations accounted for only 1.1% of the cases. Driver gene fusions were identified in 8.5% of PTCs and were clinically relevant given the emerging targeted kinase inhibitor therapy. Of the 1.6% of cases for which no driver alteration was detected, the specificity of drivers tested and tumor classification require further investigation. |
| Date: | 2023-06-10 |
| Relation: | Modern Pathology. 2023 Jun 10;36(9):Article number 100242. |
| Link to: | http://dx.doi.org/10.1016/j.modpat.2023.100242 |
| JIF/Ranking 2023: | http://gateway.webofknowledge.com/gateway/Gateway.cgi?GWVersion=2&SrcAuth=NHRI&SrcApp=NHRI_IR&KeyISSN=0893-3952&DestApp=IC2JCR |
| Cited Times(WOS): | https://www.webofscience.com/wos/woscc/full-record/WOS:001060820900001 |
| Cited Times(Scopus): | https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&scp=85172424440 |
| Appears in Collections: | [其他] 期刊論文
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