Prospective Analysis of Promoter Mutations in Papillary Thyroid Carcinoma at a Single Institution.

Background: Papillary thyroid cancer (PTC) has the highest cancer incidence in Korea. It is known that some thyroid cancers have aggressive clinical behavior and a poor prognosis. Genomic studies have described some somatic mutations that are related to the aggressive features of thyroid cancer, such as the mutation. Recently, promoter mutations were identified and reported as poor prognostic factors in PTC. Our aim was to identify the frequency and clinical impact of promoter mutation in PTC.

Methods: Analysis of both and promoter mutations in thyroidectomy specimens began in February 2019. As of December 2020, 622 patients had been tested. Data were prospectively collected and retrospectively reviewed to ascertain clinical and pathologic variables.

Results: promoter mutations were identified in 13 patients (2.09%); 12 had the C228T mutation, and one had the C216T mutation. In total, ten patients had the mutation. promoter mutation was significantly associated with advanced age (46.795 ± 12.616 versus 65.692 ± 13.628 years, < 0.001), large tumor size (1.006 ± 0.829 versus 2.285 ± 1.938 cm, = 0.035), extrathyroidal extension, surgical margin involvement, angioinvasion, mutation and advanced TNM stage, a higher MACIS score and a high proportion of radioactive iodine therapy application. Logistic regression showed that lymphatic and angioinvasion and mutation were predictive of promoter mutation.

Conclusions: Our study is the first to report the prospective results of promoter mutations at a single tertiary hospital in Incheon, Korea. PTC with promoter mutation was associated with more aggressive behavior than PTC with wild-type gene status.