利用DNA甲基化模式进行肺癌的早期检测与管理:我们做到了吗?
Use of DNA methylation patterns for early detection and management of lung cancer: Are we there yet?
作者信息
Kontic Milica, Markovic Filip
机构信息
Clinic for Pulmonology, University Clinical Center of Serbia, Belgrade, 11000, Serbia.
School of Medicine, University of Belgrade, Belgrade, 11000, Serbia.
出版信息
Oncol Res. 2025 Mar 19;33(4):781-793. doi: 10.32604/or.2024.057231. eCollection 2025.
Detecting lung cancer early is crucial for improving survival rates, yet it remains a significant challenge due to many cases being diagnosed at advanced stages. This review aims to provide advances in epigenetics which have highlighted DNA methylation patterns as promising biomarkers for early detection, prognosis, and treatment response in lung cancer. Techniques like bisulfite conversion followed by PCR, digital droplet polymerase chain reaction, and next-generation sequencing are commonly used for detecting these methylation patterns, which occur early in the cancer development process and can be detected in non-invasive samples like blood and sputum. Key genes such as SHOX2 and RASSF1A have demonstrated high sensitivity and specificity in clinical studies, making them crucial for diagnostic purposes. However, several challenges remain to be overcome before these biomarkers can be widely adopted for use in clinical practice. Standardizing the assays and validating their effectiveness are critical steps. Additionally, integrating methylation biomarkers with existing diagnostic tools could significantly enhance the accuracy of lung cancer detection, providing a more comprehensive diagnostic approach. Although progress has been made in understanding and utilizing DNA methylation patterns for lung cancer detection, more research and extensive clinical trials are necessary to fully harness their potential. These efforts will help establish the robustness of methylation patterns as biomarkers and therapeutic targets, ultimately leading to better prevention, diagnosis, and treatment strategies for lung cancer. In conclusion, DNA methylation states represent a promising avenue for advancing early detection, accurate diagnosis, and management of lung cancer.
早期发现肺癌对于提高生存率至关重要,但由于许多病例在晚期才被诊断出来,这仍然是一项重大挑战。本综述旨在介绍表观遗传学的进展,这些进展突出了DNA甲基化模式作为肺癌早期检测、预后和治疗反应的有前景的生物标志物。亚硫酸氢盐转化后进行PCR、数字液滴聚合酶链反应和下一代测序等技术通常用于检测这些甲基化模式,它们在癌症发展过程的早期出现,并且可以在血液和痰液等非侵入性样本中检测到。SHOX2和RASSF1A等关键基因在临床研究中已显示出高灵敏度和特异性,使其对诊断目的至关重要。然而,在这些生物标志物能够被广泛应用于临床实践之前,仍有几个挑战需要克服。标准化检测方法并验证其有效性是关键步骤。此外,将甲基化生物标志物与现有诊断工具相结合可以显著提高肺癌检测的准确性,提供更全面的诊断方法。尽管在理解和利用DNA甲基化模式进行肺癌检测方面已经取得了进展,但仍需要更多的研究和广泛的临床试验来充分发挥其潜力。这些努力将有助于确立甲基化模式作为生物标志物和治疗靶点的稳健性,最终带来更好的肺癌预防、诊断和治疗策略。总之,DNA甲基化状态是推进肺癌早期检测、准确诊断和管理的一个有前景的途径。