Low Prevalence of Somatic TERT Promoter Mutations in Classic Papillary Thyroid Carcinoma

Background: Transcriptional activating mutations of telomerase reverse transcriptase (TERT) are associated with more aggressive thyroid cancer. We evaluated the significance of TERT promoter mutations in Korean patients with classic papillary thyroid cancer (PTC). Method: Genomic DNA was isolated from four thyroid cancer cell lines and 35 fresh-frozen PTC tissues. TERT promoter mutations ((2281 and C250T) and the BRAE V600E mutation were evaluated by polymerase chain reaction amplification and direct sequencing. ito Result: The CC228229TT mutation in the TERT protnoter was detected in BCPAP cells and the C250T mutation was found in 8505C cells. No TERT promoter mutation was observed in Cal-62 or ML-1 cells. The C228T mutation was found in only 1 of 35 (2.8%) PTCs and no C250T mutations were detected in any of the study subjects. Tlie BRAF 600E mutation was found in 20 of 35 (57.1%) PTCs. One patient with the C228T TER T nnitation also harbored the BRAE V600E mutation and developed a recurrence. Conclusion: The prevalence of somatic TERT promoter mutations was low in Korean patients with classic PTC. Therefore, the prognostic role of TERT promoter mutations might be limited in this patient cohort.