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Cancers
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Oncogenetics of Colorectal Cancer
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Oncogenetics of Colorectal Cancer

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Pathophysiology".

Deadline for manuscript submissions: closed (31 December 2024) | Viewed by 3691

Special Issue Editors

Dr. Muhammad Kibriya

E-Mail Website
Guest Editor
1. Institute for Population and Precision Health (IPPH), Biological Sciences Division, University of Chicago, Chicago, IL 60637, USA
2. Department of Public Health Sciences, Biological Sciences Division, University of Chicago, Chicago, IL 60637, USA
Interests: colorectal carcinoma; microsatellite instability; cytogenetics; molecular genomics; GWAS; copy number change; telomere; methylation; liquid biopsy
Special Issues, Collections and Topics in MDPI journals
Dr. Marc Bissonnette

E-Mail Website
Guest Editor
Department of Medicine, Section of Gastroenterology, Hepatology and Nutrition, University of Chicago, Chicago, IL 60637, USA
Interests: colonoscopy; colon cancer; factors for growth signaling; miRNA; vitamin D

Special Issue Information

Dear Colleagues,

Colorectal carcinoma (CRC) is one of the most common cancers worldwide. It represents a heterogeneous group of disorders from a molecular genomic point of view. Sporadic CRC is the most common form and is associated with somatic mutations, DNA methylation, genomic instability in the form of copy number changes, and microsatellite instability. Inflammatory pathways and host immune response have been associated not only with pathogenesis but also targeted therapeutic options. Many of the changes occurring are also reflected in liquid biopsy samples. Full use of known and yet-to-be-known molecular changes in the tumor tissue and/or liquid biopsy for predictive, diagnostic, therapeutic, and prognostic purposes could improve personalized therapy.

This Special Issue aims to focus on original research papers and review articles on different molecular genomic and epigenetic changes in CRC tissue and liquid biopsy and their association with the pathogenesis of CRC as well as therapeutic applications and outcomes.   

Dr. Muhammad Kibriya
Dr. Marc Bissonnette
Guest Editors

Manuscript Submission Information

Manuscripts should be submitted online at www.mdpi.com by registering and logging in to this website. Once you are registered, click here to go to the submission form. Manuscripts can be submitted until the deadline. All submissions that pass pre-check are peer-reviewed. Accepted papers will be published continuously in the journal (as soon as accepted) and will be listed together on the special issue website. Research articles, review articles as well as communications are invited. For planned papers, a title and short abstract (about 100 words) can be sent to the Editorial Office for announcement on this website.

Submitted manuscripts should not have been published previously, nor be under consideration for publication elsewhere (except conference proceedings papers). All manuscripts are thoroughly refereed through a single-blind peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Cancers is an international peer-reviewed open access semimonthly journal published by MDPI.

Please visit the Instructions for Authors page before submitting a manuscript. The Article Processing Charge (APC) for publication in this open access journal is 2900 CHF (Swiss Francs). Submitted papers should be well formatted and use good English. Authors may use MDPI's English editing service prior to publication or during author revisions.

Keywords

  • colorectal carcinoma
  • somatic mutation
  • microsatellite instability
  • methylation
  • copy number change
  • tumor-infiltrating leukocyte
  • immune checkpoint inhibitor
  • drug resistance
  • cell-free DNA

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Published Papers (3 papers)

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Research

18 pages, 1911 KiB  
Article
Low Phosphatidylserine+ Cells Within the CD34+/CD45dim/CD117(c-kit)+ Subpopulation Are Associated with Poor Outcomes in Metastatic Colorectal Cancer
by Davide Brocco, Pasquale Simeone, Pietro Di Marino, Domenico De Bellis, Francesca D’Ascanio, Giulia Colasante, Antonino Grassadonia, Michele De Tursi, Rosalba Florio, Mauro Di Ianni, Alessandro Cama, Nicola Tinari and Paola Lanuti
Cancers 2025, 17(3), 499; https://doi.org/10.3390/cancers17030499 - 2 Feb 2025
Viewed by 938
Abstract
Background: Colorectal cancer is among the most prevalent causes of tumor-related deaths worldwide. Antiangiogenic therapy represents a cornerstone of metastatic CRC treatment, and biomarkers are advocated for the optimization of this therapeutic strategy. Methods: In this observational prospective study, we employed an optimized [...] Read more.
Background: Colorectal cancer is among the most prevalent causes of tumor-related deaths worldwide. Antiangiogenic therapy represents a cornerstone of metastatic CRC treatment, and biomarkers are advocated for the optimization of this therapeutic strategy. Methods: In this observational prospective study, we employed an optimized flow cytometry protocol to investigate the prognostic and predictive potential of blood circulating endothelial cells (CECs), circulating endothelial progenitor cells (CEPCs), and related subsets in a cohort of patients with metastatic colorectal cancer (n = 40). Results: Computational FC analysis revealed a differential enrichment of blood cell clusters with a CD34+/CD45dim/CD117(c-kit)+ phenotype between responders and non-responders both to antiangiogenic and non-antiangiogenic treatments. Intriguingly, our results show that a high percentage of annexin V-negative cells in a putative circulating progenitor population with a CD34+/CD45dim/CD117+ phenotype was correlated with a reduced response to systemic anticancer treatments (p = 0.015) and worse overall survival (log-rank p = 0.03). In addition, we observed increased blood concentrations of CD34+/CD45dim/CD117+/annexin V- cells in patients with a higher number of metastatic sites (p = 0.03). Conclusions: Overall, these findings hold promise for the identification of novel circulating biomarkers to develop more personalized treatment approaches in patients with metastatic colorectal cancer. Full article
(This article belongs to the Special Issue Oncogenetics of Colorectal Cancer)
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14 pages, 2071 KiB  
Article
Detection and Characterization of Circulating Tumor Cells in Colorectal Cancer Patients via Epithelial–Mesenchymal Transition Markers
by Yusuke Takahashi, Yuichi Ijiri, Shiki Fujino, Nakhaei Elnaz, Ayuko Kishimoto, Kentaro Shirai, Shigeki Iwanaga, Masatoshi Yanagida, Ali Asgar S. Bhagat and Norikatsu Miyoshi
Cancers 2025, 17(2), 303; https://doi.org/10.3390/cancers17020303 - 18 Jan 2025
Viewed by 1306
Abstract
Background/Objectives: Liquid biopsy methods have gained prominence as minimally invasive tools to improve cancer treatment outcomes. Circulating tumor cells (CTCs) offer valuable insights into both primary and metastatic lesions. However, validating the CTC test results requires confirmation that the detected cells originate from [...] Read more.
Background/Objectives: Liquid biopsy methods have gained prominence as minimally invasive tools to improve cancer treatment outcomes. Circulating tumor cells (CTCs) offer valuable insights into both primary and metastatic lesions. However, validating the CTC test results requires confirmation that the detected cells originate from cancer tissue. While studies have identified CTCs in colorectal cancer (CRC) patients using molecular markers, simultaneous validation of their cancer tissue origin remains unexplored. Methods: This study introduces a simple approach to detect adenomatous polyposis coli (APC) gene abnormalities alongside established CTC markers using a molecular imaging flow cytometer (MI-FCM). Given that APC gene abnormalities occur in 60–70% of CRC patients, their detection serves as strong evidence of cancer origin. Results: Our method achieved 92% concordance with DNA sequence analysis of tumor-derived cells. In a proof-of-concept study using 5 mL of whole blood from CRC patients, we observed a high frequency of cells exhibiting APC abnormalities, cytokeratin (CK), and vimentin (Vim) expression. Extending the study to 80 CRC patients across pathological stages I–IV confirmed CK and Vim as valid CTC markers. Three distinct cell populations were identified in blood: CK+/Vim−, CK+/Vim+, and CK−/Vim+. CTC number and frequency increased progressively with cancer stage. Conclusions: This is the first report demonstrating CK and Vim as effective markers for direct CTC detection in CRC patients. Our findings provide evidence-based validation of CTC markers, offering new insights and advancing approaches for patient care. Full article
(This article belongs to the Special Issue Oncogenetics of Colorectal Cancer)
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21 pages, 3535 KiB  
Article
New Insights into Mucosa-Associated Microbiota in Paired Tumor and Non-Tumor Adjacent Mucosal Tissues in Colorectal Cancer Patients
by Adriana González, Asier Fullaondo, David Navarro, Javier Rodríguez, Cristina Tirnauca and Adrian Odriozola
Cancers 2024, 16(23), 4008; https://doi.org/10.3390/cancers16234008 - 29 Nov 2024
Viewed by 989
Abstract
Background/Objective: Colorectal cancer (CRC) is one of the most common cancers worldwide. Increasing scientific evidence supports the idea that gut microbiota dysbiosis accompanies colorectal tumorigenesis, and these changes could be causative. Implementing gut microbiota analysis in clinical practice is limited by sample type, [...] Read more.
Background/Objective: Colorectal cancer (CRC) is one of the most common cancers worldwide. Increasing scientific evidence supports the idea that gut microbiota dysbiosis accompanies colorectal tumorigenesis, and these changes could be causative. Implementing gut microbiota analysis in clinical practice is limited by sample type, sequencing platform and taxonomic classification. This article aims to address these limitations, providing new insights into the microbiota associated with CRC pathogenesis and implementing its analyses in personalized medicine. Methods: To that aim, we evaluate differences in the bacterial composition of 130 paired tumor and non-tumor adjacent tissues from a cohort of CRC patients from the Biobank of the University of Navarra, Spain. The V3–V4 region of the 16S rRNA gene was amplified, sequenced using the MinION platform, and taxonomically classified using the NCBI database. Results: To our knowledge, this is the first study to report an increased relative abundance of Streptococcus periodonticum and a decreased relative abundance of Corynebacterium associated with CRC. Genera such as Fusobacterium, Leptotrichia and Streptococcus showed higher relative abundances in tumor than in non-tumor tissues, as previously described in the literature. Specifically, we identified higher levels of Fusobacterium animalis, Fusobacterium nucleatum, Fusobacterium polymorphum and S. periodonticum in tumor tissues. In contrast, genera such as Bacteroides and Corynebacterium showed lower relative abundances in tumor tissues. There were also differences at the taxonomic level between tumor locations. Conclusions: These results, consistent with previous studies, further support the hypothesis that Leptotrichia and Fusobacterium contribute to CRC progression, with F. nucleatum and F. animalis proposed as key CRC pathogenic taxa. Overall, these results contribute to a better understanding of the CRC-associated microbiota, addressing critical barriers to its implementation in personalized medicine. Full article
(This article belongs to the Special Issue Oncogenetics of Colorectal Cancer)
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