Chen Bing-Hong, Ng Hoi-Ioi, Liu Yong, Zhang Wei, Wang Gui-Qi
Department of Endoscopy, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100021, China.
Department of Endoscopy, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital & Shenzhen Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Shenzhen, 518116, China.
Eur J Med Res. 2025 Feb 25;30(1):136. doi: 10.1186/s40001-025-02313-z.
Currently, due to the invasive nature of colonoscopy and the associated pain, people avoid undergoing the procedure, making it difficult to detect the majority of potential early stage colorectal carcinoma/precancerous lesions or advanced adenoma. Advanced colorectal adenoma is the main precursor to the development of colorectal carcinoma. Therefore, improving advanced colorectal adenoma detection rate can significantly decrease the development and morbidity of colorectal carcinoma. Accordingly, a non-invasive method to screen high-risk people for colonoscopy in clinical practice is urgently needed.
With the development of medical technology, screening methods for colorectal carcinoma are emerging rapidly, and diverse non-invasive methods are being developed. Cell-free DNA (cfDNA), commonly referred to as liquid biopsy, has promising application prospects as a minimally invasive strategy for early screening of colorectal cancer. CfDNA has already been applied in the field of prenatal diagnosis, advanced carcinoma, and organ transplantation, and the application cfDNA in advanced colorectal adenoma is at the cutting-edge of current research. Thus, this review summarizes the progress in research on different biological characteristics of cfDNA and its utility in the screening of advanced colorectal adenoma, including sizes of cfDNA molecules, end signature of cfDNA (preferred ends, end motifs, jagged ends), nucleosomal footprints, cfDNA topology, cfDNA methylation, and cfDNA integrity.
We hope that this review will advance this promising research field.
目前，由于结肠镜检查具有侵入性且会带来相关疼痛，人们往往避免接受该检查，这使得大多数潜在的早期结直肠癌/癌前病变或高级别腺瘤难以被检测出来。高级别结直肠腺瘤是结直肠癌发生的主要前驱病变。因此，提高高级别结直肠腺瘤的检出率可显著降低结直肠癌的发生和发病率。相应地，临床实践中迫切需要一种非侵入性方法来筛查结肠镜检查的高危人群。
随着医学技术的发展，结直肠癌的筛查方法迅速涌现，各种非侵入性方法也在不断开发。游离DNA（cfDNA），通常称为液体活检，作为一种用于结直肠癌早期筛查的微创策略，具有广阔的应用前景。CfDNA已应用于产前诊断、晚期癌症和器官移植领域，而cfDNA在高级别结直肠腺瘤中的应用处于当前研究的前沿。因此，本综述总结了cfDNA不同生物学特性的研究进展及其在高级别结直肠腺瘤筛查中的应用，包括cfDNA分子大小、cfDNA的末端特征（偏好末端、末端基序、锯齿状末端）、核小体足迹、cfDNA拓扑结构、cfDNA甲基化和cfDNA完整性。
我们希望本综述能推动这一有前景的研究领域的发展。
