口腔鳞状细胞癌中TERT基因启动子突变的患病率

Prevalence of promoter mutations in the TERT gene in oral cavity squamous cell carcinoma.

作者信息

Chang Kai-Ping, Wang Chun-I, Pickering Curtis R, Huang Yenlin, Tsai Chi-Neu, Tsang Ngan-Ming, Kao Huang-Kai, Cheng Ming-Huei, Myers Jeffrey N

机构信息

Department of Otolaryngology - Head and Neck Surgery, Chang Gung Memorial Hospital, Tao-Yuan, Taiwan.

Molecular Medicine Research Center, College of Medicine, Chang Gung University, Tao-Yuan, Taiwan.

出版信息

Head Neck. 2017 Jun;39(6):1131-1137. doi: 10.1002/hed.24728. Epub 2017 Feb 23.

DOI:10.1002/hed.24728

PMID:28230921

Abstract

BACKGROUND

Mutations in the human telomerase reverse transcriptase (TERT) promoter contribute to increased TERT activity. The purpose of the present study was to assess the prevalence of TERT promoter mutations in oral cavity squamous cell carcinoma (SCC).

METHODS

Total DNA was extracted from 201 oral cavity SCC tumors and adjacent normal tissues. Primers were used to amplify the sequence region containing 2 TERT promoter mutations (C228T and C250T) that were then sequenced using the Sanger method.

RESULTS

Sequencing revealed that 52.5% (104/201) and 12.9% (26/201) of oral cavity SCC tumor tissues and 6.0% (12/201) and 2.5% (5/201) of adjacent normal tissues contained C228T and C250T mutations, respectively. In addition, the C228T mutation was significantly associated with betel nut chewing.

CONCLUSION

Our results show that mutations in the TERT promoter occur in patients with oral cavity SCC at a high frequency. This suggests that somatic TERT promoter mutations could play a vital role in the pathogenesis and progression of oral cavity SCC. © 2017 Wiley Periodicals, Inc. Head Neck 39: 1131-1137, 2017.

摘要