Department of Otolaryngology-Head and Neck Surgery, Iuliu Hatieganu University of Medicine and Pharmacy, Cluj-Napoca, Romania.
J Med Life. 2022 Sep;15(9):1191-1197. doi: 10.25122/jml-2022-0114.
The applicability of the telomerase reverse transcriptase (TERT) gene Rs2736100 polymorphism in cancer research has been well documented for various malignancies except for head and neck cancers, where data is sparse. This study aimed to analyze this polymorphism with the pathological characterizers of laryngeal squamous cell carcinoma (LSCC) patients. Genetic testing was performed using the Real-time PCR technique on 56 paired samples of biological material (blood and tissue). Data were analyzed using Epi info 7 software. The subjects were predominantly male (95% . 5%), with a median age of 62 years, and smokers (89%). The primary tumor origin site was the glottic region (34%), and the advanced clinical stages III-IV were more common (46% . 18%). Results show high frequencies for the mutated variants of Rs2736100 (CC 36%>AC 34%>AA 30%), while distribution according to tumor classification criteria leaned towards moderately differentiated carcinoma specimens in T3-T4 stages for the AC/CC variants (P-value without statistical significance) but positively favored the relationship between the AA variant and lack of lymph node metastasis (P=0.0106). The genotypes tend to associate themselves with a better histological presentation regarding the pattern of tumor invasion and, thus, better prognostic values for LSCC. Results suggest that the wild-type genotype of TERT Rs2736100 may be a protective factor for lymph node metastasis and histological pattern of tumor invasion in LSCC. Results regarding the synergistic relationship between cancer and smoking corroborate literature data for moderate to severe smokers regardless of the genetic variant.
端粒酶逆转录酶(TERT)基因 Rs2736100 多态性在各种恶性肿瘤中的应用已有充分的文献记载,但在头颈部癌症中,数据较为匮乏。本研究旨在分析该多态性与喉鳞状细胞癌(LSCC)患者的病理特征之间的关系。使用 Real-time PCR 技术对 56 对生物材料(血液和组织)的样本进行基因检测。使用 Epi info 7 软件对数据进行分析。研究对象主要为男性(95%. 5%),中位年龄为 62 岁,且均为吸烟者(89%)。原发肿瘤起源于声门区(34%),且更常见晚期临床分期 III-IV 期(46%. 18%)。结果显示,Rs2736100 的突变型变体频率较高(CC 36%>AC 34%>AA 30%),而根据肿瘤分类标准的分布倾向于 T3-T4 期的中分化癌标本,对于 AC/CC 变体(无统计学意义的 P 值),但 AA 变体与无淋巴结转移呈正相关(P=0.0106)。基因型与肿瘤浸润模式的组织学表现相关,因此与 LSCC 的预后价值相关。结果表明,TERT Rs2736100 的野生型基因型可能是 LSCC 淋巴结转移和肿瘤浸润组织学模式的保护因素。关于癌症与吸烟协同作用的结果与中重度吸烟者的文献数据相符,无论遗传变体如何。