Núcleo de Genética Humana e Molecular, Departamento de Ciências Biológicas, Centro de Ciências Humanas e Naturais, Universidade Federal do Espírito Santo, Av. Marechal Campos, 1468. Maruípe, Vitória, ES 29040-090, Brazil.
Mol Biol Rep. 2011 Nov;38(8):5435-41. doi: 10.1007/s11033-011-0698-1. Epub 2011 Mar 5.
Early detection of Oral Squamous Cell Carcinoma (OSCC) is important to reduce mortality rates and to help provide successful cancer treatment. Hypermethylation of CpG islands is a common epigenetic mechanism that leads to gene silencing in tumors and could be a useful biomarker in OSCC. Abnormal DNA hypermethylation can occur very early in cancer development and may be induced by exposure to environmental carcinogens. We set out to investigate the methylation status of cancer-related genes in normal oral exfoliated cells from OSCC patients and healthy volunteers, as well as possible associations with alcohol/tobacco exposure or specific tumor characteristics. The methylation status of CDKN2A (cyclin-dependent kinase inhibitor 2A or p16), SFN (stratifin or 14-3-3 σ), EDNRB (endothelin receptor B) and RUNX3 (runt-related transcript factor-3) was evaluated by MSP (Methylation-Specific Polymerase Chain Reaction) analysis in non-neoplastic oral epithelial cells from OSCC patients (n = 70) and cancer-free subjects (n = 41). Hypermethylation was observed in CDKN2A, EDNRB and SFN genes, whereas no methylation was found in the RUNX3 gene. CDKN2A hypermethylation occurred only in the OSCC group (5.7%) while SFN and EDNRB hypermethylation occurred in both groups. There was no association between hypermethylation and smoking, drinking habits or specific tumor characteristics.
早期发现口腔鳞状细胞癌（OSCC）对于降低死亡率和帮助提供成功的癌症治疗非常重要。CpG 岛的异常甲基化是一种常见的表观遗传机制，导致肿瘤中的基因沉默，并且可能是 OSCC 中的有用生物标志物。异常的 DNA 甲基化可能在癌症发展的早期就发生，并且可能是由暴露于环境致癌物引起的。我们着手研究 OSCC 患者和健康志愿者的正常口腔脱落细胞中与癌症相关的基因的甲基化状态，以及与酒精/烟草暴露或特定肿瘤特征的可能关联。通过 MSP（甲基化特异性聚合酶链反应）分析，评估了非肿瘤性口腔上皮细胞中 CDKN2A（细胞周期蛋白依赖性激酶抑制剂 2A 或 p16）、SFN（层粘连蛋白或 14-3-3 σ）、EDNRB（内皮素受体 B）和 RUNX3（ runt 相关转录因子-3）的甲基化状态。在 OSCC 患者（n=70）和无癌症患者（n=41）中观察到 CDKN2A、EDNRB 和 SFN 基因的异常甲基化，而 RUNX3 基因则未发现甲基化。CDKN2A 异常甲基化仅发生在 OSCC 组（5.7%），而 SFN 和 EDNRB 异常甲基化发生在两组中。甲基化与吸烟、饮酒习惯或特定肿瘤特征之间没有关联。
