engleski

Distribution of TERT promotor mutation in regard to clinical presentation of papillary thyroid cancer

Papillary thyroid cancer (PTC) is the most common endocrine cancer. Clinicopathological features of PTC used for disease staging and treatment planning could be altered due to acquired mutations during tumor development. TERT promotor mutations are suggested to have a potential role in the dedifferentiation on PTC with a possible effect on its aggressiveness. The aim of this study is to analyse TERT promotor mutation in relation to clinicopathological characteristics of PTC patients. This retrospective study included 77 subjects (32 male, 42 female) with confirmed PTC whose data were obtained from the Dpt. of Oncology and Nuclear Medicine, Sestre milosrdnice UHC, Croatia. The study population consisted of 26 patients without PTC dissemination, 35 with local and 16 with distant metastasis. DNA was isolated from formalin-fixed paraffin-embedded samples and Sanger sequencing of the TERT promotor region was performed. In this study, 9.5% of cases (7/74) carried a hotspot mutation in the TERT promotor, which is in accordance with literature data. In 6 cases the most comon c124C>T (8.11%) mutation was detected, and in 2 cases the c146C>T mutation was present. Described TERT mutations did not significantly correlate with PTC dissemination stage. However, TERT mutation was significantly more often present in older female population (p<0, 001). Other detected variants were of unknown clinical significance, with the most common c105C>T, c106C>T and c107C>T, as well as c127C>T and c148C>T, in close proximity to the hotspot variants. Although men presented with statistically significant more aggressive disease, TERT mutation does not significantly correlate with PTC dissemination regardless of sex and age of diagnosis. Nevertheless, TERT mutation in females was exclusively present in older age group (>55) supporting that TERT promotor mutation is a late genetic event in tumors that progressively lose differentiation and are aggressive in nature.

thyroid cancer ; prognostic markers ; TERT promoter mutations

nije evidentirano