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Copy Number Variations as Determinants of Colorectal Tumor Progression in Liquid Biopsies
Jessica Debattista1, Laura Grech1, Christian Scerri2
1Department of Pathology, Faculty of Medicine and Surgery, University of Malta, MSD 2080 Msida, Malta.
International Journal of Molecular Sciences
|January 21, 2023
Summary
Copy number variations (CNVs) are key in colorectal cancer (CRC) progression and staging. Liquid biopsies analyzing CNVs offer less invasive methods for early detection and patient management.
Area of Science:
- Oncology
- Genetics
- Molecular Biology
Background:
- Copy number variations (CNVs) are increasingly recognized for their role in colorectal cancer (CRC) pathogenesis and prognosis.
- While colorectal adenomas are common, only a small fraction progress to carcinoma, highlighting the need to understand progression mechanisms.
Purpose of the Study:
- To review CNVs associated with adenoma-carcinoma progression in CRC.
- To explore the utility of CNVs in circulating tumor materials for CRC staging and patient management.
Main Methods:
- Review of existing literature on CNVs in colorectal adenoma-carcinoma progression.
- Analysis of studies utilizing liquid biopsies (circulating free-RNA, exosomes, ctDNA, CTCs) for CNV detection.
- Evaluation of diagnostic and predictive models based on liquid biopsy findings.
Main Results:
- CNVs are implicated in both the progression from adenoma to carcinoma and in CRC staging.
- Characterization of CNVs in circulating free-RNA and exosomes shows promise for patient management and early metastasis detection.
- Liquid biopsies offer less invasive alternatives to tissue biopsies, addressing tumor heterogeneity and providing a comprehensive tumor profile.
Conclusions:
- CNVs are critical biomarkers in CRC development and progression.
- Liquid biopsy-based CNV analysis presents a promising avenue for non-invasive CRC detection, metastasis monitoring, and personalized patient management.
- Further development of diagnostic and predictive models using liquid biopsies is essential for clinical application.
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