Cancer Genetics and Epigenetics 2024, Vol.12, No.5, 254-269 http://medscipublisher.com/index.php/cge 254 Research Insight Open Access The Role of Circulating Tumor Cells in Non-Invasive Colon Cancer Diagnosis Jiangcong Ma 2, Pengchen Li 2, Wenyan Sun2, Chenghao Li 1 1 School of Life Science and Technology, State Key Laboratory of Urban Water Resource and Environment, Harbin Institute of Technology, Harbin, 150006, Heilongjiang, China 2 School of Biomedical Engineering, School of Ophthalmology and Optometry and Eye Hospital, Wenzhou Medical University, Wenzhou, 325027, Zhejiang, China Corresponding email: lichenghao.bioinformatics@gmail.com Cancer Genetics and Epigenetics, 2024, Vol.12, No.5 doi: 10.5376/cge.2024.12.0025 Received: 30 Jul, 2024 Accepted: 10 Sep., 2024 Published: 19 Sep., 2024 Copyright © 2024 Ma et al., This is an open access article published under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Preferred citation for this article: Ma J.C., Li P.C., Sun W.Y., and Li C.B., 2024, The role of circulating tumor cells in non-invasive colon cancer diagnosis, Cancer Genetics and Epigenetics, 12(5): 254-269 (10.5376/cge.2024.12.0025) Abstract Colorectal cancer (CRC), the third most common malignancy worldwide, poses a serious threat to human health due to its high incidence and mortality rates. Although the development of radical surgery and adjuvant chemotherapy has improved the prognosis of CRC patients to some extent, postoperative recurrence and distant metastasis remain the leading causes of patient mortality. Therefore, there is an urgent need to develop non-invasive, highly sensitive, and specific diagnostic methods for early detection and monitoring of CRC recurrence. This study investigates the application of circulating tumor cells (CTCs) in the non-invasive diagnosis of CRC, evaluating the potential and value of CTCs as biomarkers for CRC. CTCs, tumor cells that detach from solid tumors and enter the peripheral blood circulation, form clusters and undergo distant metastasis.They are closely associated with the metastasis, recurrence, and prognosis of CRC. By detecting the quantity, phenotype, and molecular characteristics of CTCs, early diagnosis, recurrence monitoring, and prognosis evaluation of CRC can be achieved, providing more precise therapeutic guidance for clinical practice. This study offers a thorough exploration of the role of CTCs in the non-invasive diagnosis of CRC, providing new ideas and methods for early detection, recurrence monitoring, and prognosis evaluation of CRC, with significant clinical significance and application prospects. Keywords Circulating tumor cells (CTCs); CTC cluster; Colorectal cancer; Non-invasive diagnosis; Biomarkers; Early detection 1 Introduction Colorectal cancer (CRC) remains one of the leading causes of cancer-related morbidity and mortality worldwide. Early detection and diagnosis are crucial for improving patient outcomes, as they allow for timely intervention and treatment. Traditional diagnostic methods, such as colonoscopy and tissue biopsy, are invasive and often associated with patient discomfort and risk of complications. Therefore, there is a growing interest in non-invasive diagnostic techniques that can facilitate early detection and monitoring of CRC. One promising approach is the analysis of circulating tumor cells (CTCs) in peripheral blood, which has the potential to revolutionize the landscape of cancer diagnostics.(Benson et al., 2018; Labianca el al., 2010; Fabregas et al., 2022;Arnold el at., 2017; Center et al., 2009) Early diagnosis of colon cancer significantly enhances the chances of successful treatment and long-term survival. Conventional diagnostic methods, while effective, are not without limitations. Colonoscopy, the gold standard for CRC screening, is invasive, requires bowel preparation, and is associated with risks such as bleeding and perforation. Additionally, patient compliance with colonoscopy screening programs is often suboptimal. As a result, there is a critical need for alternative, non-invasive diagnostic tools that can complement or even replace current methods. CTCs, which are cancer cells that have shed from the primary tumor into the bloodstream, offer a promising non-invasive alternative for early cancer detection. These cells can be detected and analyzed using various techniques, providing valuable information about the presence and characteristics of the tumor. Studies have shown that CTC enumeration and characterization can serve as prognostic indicators for several types of cancer, including colorectal cancer (Masuda et al., 2016; Sundling and Lowe, 2019; Zhang et al., 2020; Chelakkot et al.,
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