TERT Promoter Mutation in Benign and Malignant Salivary Gland Tumors; A Cross-Sectional Study.

Ali Zare-Mirzaie, Shamim Mollazadehghomi, Seyed Mohammad Heshmati, Amirhosein Mehrtash, Shabnam Mollazadehghomi
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Abstract

Background & objective: Telomere-related tumorigenesis mechanisms in the salivary gland, including mutation in the promoter region of TERT, have been rarely investigated. Therefore, the present study aimed to investigate the mutation in the promoter region of TERT in benign and malignant salivary gland tumors.

Methods: This was a descriptive-analytical cross-sectional study. Tissue samples of 54 patients with primary salivary gland tumors sent to the pathology department of Rasool-e-Akram Hospital from September 2017 to September 2021 were examined. Fifteen samples including two groups of the most common benign tumors (n=5; 3 pleomorphic adenomas and 2 Warthin tumors) and four groups of the most common malignant tumors (n=10; 3 mucoepidermoid carcinomas, 3 adenoid cystic carcinomas, 2 acinic cell carcinoma, and 2 salivary duct carcinoma) were selected. The promoter region of TERT, including well-known hot spot regions, is sequenced using the Sanger sequencing method. Data were analyzed using statistical software R version 4.1.2.

Results: Of 15 salivary gland tumor specimens, consisting of 5 benign tumors and 10 malignant tumors after DNA sequencing, TERT promoter region mutation was only seen in one of the adenoid cystic carcinoma samples, located at -146 bp upstream from ATG (chr5: 1,295,250 C>T).

Conclusion: TERT promoter mutation was not different in malignant and benign salivary tumors. Nonetheless, there are a few studies that report TERT promoter mutation in adenoid cystic carcinoma of the salivary gland, necessitating the need for further investigations.

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良恶性唾液腺肿瘤TERT启动子突变的研究横断面研究。
背景与目的:唾液腺中端粒相关的肿瘤发生机制,包括TERT启动子区域的突变,很少被研究。因此,本研究旨在探讨TERT启动子区在良恶性唾液腺肿瘤中的突变情况。方法:这是一项描述性分析的横断面研究。对2017年9月至2021年9月在Rasool-e-Akram医院病理科室就诊的54例原发性唾液腺肿瘤患者的组织样本进行了检查。15个样本,包括两组最常见的良性肿瘤(n=5;多形性腺瘤3例,Warthin瘤2例)和4组最常见的恶性肿瘤(n=10;选择3例粘液表皮样癌、3例腺样囊性癌、2例腺泡细胞癌、2例唾液管癌。采用Sanger测序法对TERT的启动子区域,包括众所周知的热点区域进行测序。采用统计软件R 4.1.2对数据进行分析。结果:DNA测序后,在15例涎腺肿瘤标本中,5例为良性肿瘤,10例为恶性肿瘤,仅1例腺样囊性癌标本中发现TERT启动子区突变,位于ATG上游-146 bp (chr5: 1,295,250 C>T)。结论:TERT启动子突变在恶性和良性涎腺肿瘤中无明显差异。尽管如此,也有少数研究报道了唾液腺腺样囊性癌中TERT启动子突变,需要进一步的研究。
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来源期刊
Iranian Journal of Pathology
Iranian Journal of Pathology Medicine-Pathology and Forensic Medicine
CiteScore
2.00
自引率
0.00%
发文量
99
审稿时长
20 weeks
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