Endocrinol Metab.  2016 Mar;31(1):100-104. 10.3803/EnM.2016.31.1.100.

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

Affiliations
  • 1Department of Internal Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea. wongukim@amc.seoul.kr
  • 2Asan Institute of Life Sciences, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea.

Abstract

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).
METHODS
Genomic DNA was isolated from four thyroid cancer cell lines and 35 fresh-frozen PTC tissues. TERT promoter mutations (C228T and C250T) and the BRAF V600E mutation were evaluated by polymerase chain reaction amplification and direct sequencing.
RESULTS
The CC228229TT mutation in the TERT promoter 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. The BRAF V600E mutation was found in 20 of 35 (57.1%) PTCs. One patient with the C228T TERT mutation also harbored the BRAF 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.

Keyword

Thyroid cancer, papillary; Telomerase; Mutation

MeSH Terms

Cell Line
Cohort Studies
DNA
Humans
Polymerase Chain Reaction
Prevalence*
Recurrence
Telomerase
Thyroid Gland*
Thyroid Neoplasms*
DNA
Telomerase

Figure

  • Fig. 1 Direct sequencing results of the human transcriptional activating mutations of telomerase reverse transcriptase (TERT) promoter in thyroid cancer cell lines. (A) BCPAP cells had the CC228229TT mutation in the TERT promoter. (B) 8505C cells had the C250T and C253T mutations in the TERT promoter.

  • Fig. 2 Direct sequencing results of the human transcriptional activating mutations of telomerase reverse transcriptase (TERT) promoter in papillary thyroid cancer (PTC). (A) One patient with PTC had the C228T TERT promoter mutation. (B) Representative results of 34 PTCs with the wild-type TERT promoter.


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