AI Article Synopsis
- The study investigates genetic mutations in papillary thyroid carcinoma (PTC) in Korea, highlighting the dominance of the BRAF mutation and the presence of RAS mutations in some wild-type cases.
- A total of 769 PTC samples were analyzed, revealing that 89.3% exhibited molecular changes, with BRAF mutations being the most common at 80.8%.
- The research found differences in genetic alterations across PTC variants, including a 2.7% prevalence of a reclassified non-invasive variant (NIFTP), which showed notable mutation rates for BRAF and RAS.
Article Abstract
Background: The BRAF 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. BRAF 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 BRAF 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.
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| http://dx.doi.org/10.1089/thy.2016.0547 | DOI Listing |
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