Association between mutation profiles and clinicopathological features in Chinese patients with thyroid cancer

Recently, mutation profiles provided new insights into comprehensive understanding of TC biology by Next Generation Sequencing (NGS). We explored association between mutation profiles and clinicopathological features in Chinese patients with thyroid cancer (TC). Two hundred and twenty-five formalin-fixed, paraffin-embedded tissue specimens from surgically removed thyroid samples were detected with 15 target genes by NGS. Mutation profiles and clinicopathological features were analyzed. Two hundred and seven mutations including two hundred mutations in 81.40% papillary thyroid carcinoma samples, three mutations in 50.00% MTC samples, and four mutations in 100% anaplastic thyroid carcinoma samples were detected. There were 19.56% samples without any mutations in target genes, 69.78% samples harbored mutations in single gene, 9.78% samples carried two gene mutations, and 0.89% samples had triple different gene mutations. For PTC, BRAF mutations were predominant, TERT mutations are more prevalent in advanced PTC and RET fusion was only observed among the PTC. For MTC, RET point mutations were predominant. For samples carried more than one gene mutations, the allelic frequency of mutants were almost similar. Multiple mutations in TC patients were significantly more frequent in cases of patients aged 55 and over (p <.001) and advanced American Joint Committee on Cancer (AJCC) cancer stage (p <.001). Gender (p = .309) and pathological subtype (p = .121) did not show significant correlation with mutations. Analysis between mutation profiles and clinicopathological features provides new insights into the biology of TC and is expected to increase the accuracy of diagnosis and prognostication in TC, leading to improved precision treatment for TC patients.