Porcaro Floriana, Voccola Serena, Cardinale Gaetano, Porcaro Piercarmine, Vito Pasquale
Centro Delta srl, Apollosa, Italy.
Consorzio Sannio Tech, Apollosa, Italy.
Oncol Rev. 2024 Jul 23;18:1408529. doi: 10.3389/or.2024.1408529. eCollection 2024.
Colorectal cancer (CRC) is a significant global health challenge, ranking among the leading causes of cancer-related mortality worldwide. Despite efforts in prevention and early detection, CRC incidence and mortality rates are expected to rise substantially. Traditional screening methods like gFOBT, FIT, flexible sigmoidoscopy, colonoscopy, CTC, and colon capsule have limitations, including false positives/negatives, limited scope, or invasiveness. Recent developments in CRC screening involve DNA methylation biomarkers, showing promise in detecting early-stage CRC and precancerous lesions. Stool-based DNA testing is emerging as a noninvasive and convenient method for detecting CRC-associated DNA methylation alterations, offering potential for earlier detection compared to traditional methods. Several commercial stool-based DNA methylation tests targeting different genes associated with CRC have demonstrated varying sensitivity and specificity, some surpassing traditional screening methods. Challenges remain in optimizing their performance and accessibility. This review discusses how DNA methylation biomarkers could enhance CRC screening, and stool-based DNA methylation tests could revolutionize CRC screening practices, comparing them to the gold standard.
结直肠癌（CRC）是一项重大的全球健康挑战，在全球癌症相关死亡率的主要原因中名列前茅。尽管在预防和早期检测方面做出了努力，但预计CRC的发病率和死亡率仍将大幅上升。传统的筛查方法，如粪便潜血试验（gFOBT）、粪便免疫化学试验（FIT）、乙状结肠镜检查、结肠镜检查、CT结肠成像（CTC）和结肠胶囊内镜检查都有局限性，包括假阳性/假阴性、范围有限或具有侵入性。CRC筛查的最新进展涉及DNA甲基化生物标志物，在检测早期CRC和癌前病变方面显示出前景。基于粪便的DNA检测正在成为一种检测CRC相关DNA甲基化改变的非侵入性且方便的方法，与传统方法相比具有更早检测的潜力。几种针对与CRC相关的不同基因的基于粪便的DNA甲基化商业检测已显示出不同的敏感性和特异性，有些超过了传统筛查方法。在优化其性能和可及性方面仍然存在挑战。本综述讨论了DNA甲基化生物标志物如何增强CRC筛查，以及基于粪便的DNA甲基化检测如何彻底改变CRC筛查实践，并将它们与金标准进行比较。
