AUTHOR=Nie Xilin , Shang Jinbiao , Wang Wendong 

TITLE=TERT genetic polymorphism rs2736100 is associated with an aggressive manifestation of papillary thyroid carcinoma

JOURNAL=Frontiers in Surgery

VOLUME=9

YEAR=2023

URL=https://www.frontiersin.org/journals/surgery/articles/10.3389/fsurg.2022.1019180

DOI=10.3389/fsurg.2022.1019180

ISSN=2296-875X

ABSTRACT=<sec><title>Objectives</title><p><italic>TERT rs2736100</italic> genetic polymorphism is commonly found in human malignancies, indicating its key role in cancer cell transformation. The aim of this study is to investigate the effects of the functional <italic>TERT rs2736100</italic> genetic polymorphism on the outcomes of papillary thyroid carcinoma (PTC) patients.</p></sec><sec><title>Materials and methods</title><p>We performed a retrospective study on the relationship between <italic>rs2736100</italic> and clinicopathological outcomes of PTC in 500 patients (378 females and 122 males) aged 43.8 ± 11.4 years (range 15–74 years) with a median follow-up of 60 months (range, 1–455 months).</p></sec><sec><title>Results</title><p><italic>TERT rs2736100</italic> genetic polymorphism (TG/GG vs. TT) was significantly associated with several high-risk clinicopathological features such as tumor spread, extrathyroidal extension, central/lateral lymph node metastases, and Stage T III or IV disease. However, in Kaplan–Meier survival analyses, the <italic>rs2736100</italic> mutation was unrelated to overall disease-free survival with a log-rank value of <italic>p</italic> &gt; 0.05. In Cox-regression analyses, the overall survival rate of recurrence/neo-metastasis was related to a larger tumor size, younger age, and tumor spread but unrelated to the <italic>rs2736100</italic> mutation.</p></sec><sec><title>Conclusions and significance</title><p><italic>TERT rs2736100</italic> genetic polymorphism mutation is more likely to manifest with aggressive clinicopathological characteristics but cannot worsen prognosis in PTC.</p></sec>