Copy Number Variations as Determinants of Colorectal Tumor Progression in Liquid Biopsies

Jessica Debattista; Laura Grech; Christian Scerri; Godfrey Grech

doi:10.3390/ijms24021738

Copy Number Variations as Determinants of Colorectal Tumor Progression in Liquid Biopsies

Int J Mol Sci. 2023 Jan 16;24(2):1738. doi: 10.3390/ijms24021738.

Authors

Jessica Debattista¹, Laura Grech¹, Christian Scerri², Godfrey Grech¹

Affiliations

¹ Department of Pathology, Faculty of Medicine and Surgery, University of Malta, MSD 2080 Msida, Malta.
² Department of Physiology and Biochemistry, Faculty of Medicine and Surgery, University of Malta, MSD 2080 Msida, Malta.

Abstract

Over the years, increasing evidence has shown that copy number variations (CNVs) play an important role in the pathogenesis and prognosis of Colorectal Cancer (CRC). Colorectal adenomas are highly prevalent lesions, but only 5% of these adenomas ever progress to carcinoma. This review summarizes the different CNVs associated with adenoma-carcinoma CRC progression and with CRC staging. Characterization of CNVs in circulating free-RNA and in blood-derived exosomes augers well with the potential of using such assays for patient management and early detection of metastasis. To overcome the limitations related to tissue biopsies and tumor heterogeneity, using CNVs to characterize tumor-derived materials in biofluids provides less invasive sampling methods and a sample that collectively represents multiple tumor sites in heterogeneous samples. Liquid biopsies provide a source of circulating tumor DNA (ctDNA), circulating tumor cells (CTCs), tumor-derived exosomes (TDE), circulating free RNA, and non-coding RNA. This review provides an overview of the current diagnostic and predictive models from liquid biopsies.

Keywords: CNV; CRC; CTC; ctDNA; exosomes; liquid biopsies; long-RNA.

Publication types

Review

MeSH terms

Adenoma* / diagnosis
Adenoma* / genetics
Biomarkers, Tumor / genetics
Carcinoma*
Cell-Free Nucleic Acids* / genetics
Colorectal Neoplasms* / diagnosis
Colorectal Neoplasms* / genetics
Colorectal Neoplasms* / pathology
DNA Copy Number Variations / genetics
Humans
Liquid Biopsy / methods
Neoplastic Cells, Circulating* / pathology
RNA

Substances

Cell-Free Nucleic Acids
RNA
Biomarkers, Tumor

Grants and funding

The authors include L.G., who is funded through a project titled “Molecular Signature of Metastatic Disease in Colorectal Cancer (MolMed)” granted by the Emanuele Cancer Research Foundation Malta (ECRFM).