Correlation between genetic alterations and clinicopathological features of papillary thyroid carcinomas.

Objective: To investigate the correlations between multigene alterations and clinicopathological features in papillary thyroid carcinoma (PTC) samples.

Methods: In this retrospective study, 111 cytological specimens of thyroid nodules, including 74 PTC samples and 37 benign samples, were analyzed using a 22-gene mutation assay employing next-generation sequencing. Clinicopathological information was retrospectively collected and analyzed.

Results: Gene alterations were associated with a higher rate of lymph node metastasis (LNM) and thyroid capsular invasion, a lower rate of coexisting Hashimoto's thyroiditis, the classical PTC subtype, and younger age (<45 years). Among the 22 genes tested, the mutation rates showed a significant difference between the PTC and benign groups. In the subgroup analysis, younger age (odds ratio = 12.512, 95% confidence interval: 3.126-50.087) was an independent risk factor for LNM. In further analyses, mutation was significantly associated with LNM in the older subgroup (age ≥ 45 years), suggesting that the mutation test has greater value for determining PTC prognosis in the older age group.

Conclusions: Our findings will provide a more comprehensive understanding of the relationship between gene mutations and PTC and may contribute to improved PTC management.