Mutations of the promoter are associated with aggressiveness and recurrence/distant metastasis of papillary thyroid carcinoma.

Several previous studies have shown that mutations in B-Raf proto-oncogene () and telomerase reverse transcriptase () can be used for the diagnosis and prognosis of papillary thyroid carcinoma (PTC). However, whether mutations in and the promoter may improve the accurate identification and risk stratification of high-risk patients in the early stage of PTC remains unclear and requires further investigation. In the present study, mutations in and the promoter were examined in 205 patients using PCR and Sanger DNA sequencing. The potential association between mutations in these two genes and the clinicopathological characteristics of patients with PTC was then analyzed. mutations were identified in 169/205 (82.4%) patients, whereas only 8/205 (3.9%) patients presented mutations in the promoter, seven patients exhibited a C228T mutation, and the remaining one had a C250T mutation. There were 6/205 (2.9%) patients with mutations in both and the promoter. Importantly, compared with patients with no mutations, patients with mutations in were more likely to exhibit mutations in the promoter. A significant difference in lymph node metastasis was found between the V600E mutation group and the group without mutations in . Mutations in the promoter were significantly correlated with older age, extrathyroidal invasion, tumor multifocality and advanced tumor/node/metastasis stage, which are associated with the aggressiveness of PTC. Moreover, compared with patients exhibiting mutations in , mutations in the promoter were found to be significantly associated with aggressive clinicopathological features and higher risk of recurrence or distant metastasis. Collectively, mutations in the promoter were not frequent, but were significantly correlated with more aggressive clinicopathological features of PTC. Therefore, mutations in the promoter may be an important factor in the genetic background of PTC, and detection of such mutations may help the accurate identification and management of high-risk patients with recurrent or distant metastasis.