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Screening and Genetic Characterization of Colorectal Cancer: A Multi-Step Approach

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A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Cancer Causes, Screening and Diagnosis".

Deadline for manuscript submissions: closed (30 June 2021) | Viewed by 11689

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Special Issue Editors

Dr. Silvia Sanduleanu

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Guest Editor

Gastroenterology and Hepatology, University Hospital Maastricht, P.O. Box 616 Maastricht, The Netherlands
Interests: colorectal cancer; screening; clinical diagnosis; endoscopic imagining and (endoscopic) treatment; clinical biomarkers of colorectal cancer; inflammatory bowel disease and colorectal cancer

Dr. Giovanni Crisafulli

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Guest Editor

1. Department of Oncology, University of Torino, 10060 Candiolo, TO, Italy
2. Candiolo Cancer Institute, FPO–IRCCS, 10060 Candiolo, TO, Italy
Interests: genetics; liquid biopsy; tumour heterogeneity, clonal evolution; bioinformatics; colorectal cancers
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Colorectal cancer (CRC) is a largely preventable genetic disease, with well-established population-based organized screening programs and structured opportunistic screening in many countries across the world. Despite strong evidence that screening can reduce CRC incidence and mortality, wide variation still exists in the status, strategy, and effectiveness of the implementation of CRC screening efforts worldwide. When the tumor is identified, different advanced genetic approaches can be applied for its characterization. These approaches are relevant for patient stratification and the guidance of therapy in the precision oncology era. However, economic resources, healthcare structure, and infrastructure vary in their support of screening and precision oncology, guided by the advanced genetic characterization of the tumor. In addition, the COVID-19 pandemic has had a significant impact on screening and can enhance existing disparities. Many CRC screening and advanced genetic approaches that depend on research activities have been reduced or temporarily shut down during the pandemic, leading to a significant increase in cancer incidence and treatment delays. Because of the unknown timeline of the pandemic, this disruption may, in turn, decrease patient motivation to participate in screening or therapy.

This Special Issue presents a brief overview of CRC burden and the activity of genetic characterization, with a particular focus on challenges in the post-COVID-19 world. We address current trends in CRC screening/advanced genetic characterization and propose solutions to potential barriers.

Dr. Giovanni Crisafulli
Guest Editor

Dr. Silvia Sanduleanu
Guest Editor

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 short 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 cancer
screening
prevention
COVID-19

Published Papers (3 papers)

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Research

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13 pages, 888 KiB

Open AccessArticle

Endoscopic Ultrasound Fine-Needle Biopsy versus Fine-Needle Aspiration for Tissue Sampling of Abdominal Lymph Nodes: A Propensity Score Matched Multicenter Comparative Study

by Antonio Facciorusso, Stefano Francesco Crinò, Nicola Muscatiello, Paraskevas Gkolfakis, Jayanta Samanta, Juliana Londoño Castillo, Christian Cotsoglou and Daryl Ramai

Cancers 2021, 13(17), 4298; https://doi.org/10.3390/cancers13174298 - 26 Aug 2021

Cited by 22 | Viewed by 2111

Abstract

There is a paucity of evidence on the comparison between endoscopic ultrasound (EUS) fine-needle biopsy (FNB) and fine-needle aspiration (FNA) for lymph node (LNs) sampling. The aim of this study was to compare these two approaches in a multicenter series of patients with abdominal tumors. Out of 502 patients undergoing EUS sampling, two groups following propensity score matching were compared: 105 undergoing EUS-FNB and 105 undergoing EUS-FNA. The primary outcome was diagnostic accuracy. Secondary outcomes were diagnostic sensitivity, specificity, sample adequacy, optimal histological core procurement, number of passes, and adverse events. Median age was 64.6 years, and most patients were male in both groups. Final diagnosis was LN metastasis (mainly from colorectal cancer) in 70.4% of patients in the EUS-FNB group and 66.6% in the EUS-FNA group (p = 0.22). Diagnostic accuracy was significantly higher in the EUS-FNB group as compared to the EUS-FNA group (87.62% versus 75.24%, p = 0.02). EUS-FNB outperformed EUS-FNA also in terms of diagnostic sensitivity (84.71% vs. 70.11%; p = 0.01), whereas specificity was 100% in both groups (p = 0.6). Sample adequacy analysis showed a non-significant trend in favor of EUS-FNB (96.1% versus 89.5%, p = 0.06) whereas the histological core procurement rate was significantly higher with EUS-FNB (94.2% versus 51.4%; p < 0.001). No procedure-related adverse events were observed. These findings show that EUS-FNB is superior to EUS-FNA in tissue sampling of abdominal LNs. Full article

(This article belongs to the Special Issue Screening and Genetic Characterization of Colorectal Cancer: A Multi-Step Approach)

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11 pages, 694 KiB

Open AccessFeature PaperArticle

Abdominal Desmoid: Course, Severe Outcomes, and Unique Genetic Background in a Large Local Series

by Gilad Ophir, Shamai Sivan, Strul Hana, Rosner Guy, Gluck Nathan, Fliss Isakov Naomi, Klausner Joseph, Wolf Ido, Merimsky Ofer, Goldberg Yael, Levi Zohar, Zer Alona and Kariv Revital

Cancers 2021, 13(15), 3673; https://doi.org/10.3390/cancers13153673 - 22 Jul 2021

Cited by 6 | Viewed by 5745

Abstract

Introduction: Abdominal desmoid tumors are locally aggressive tumors that develop in familial adenomatous polyposis (FAP) patients, within the mesentery or abdominal wall. The understanding and implications of the treatment regimens are evolving. Aim: To assess the course, treatment, and outcomes of FAP and non-FAP abdominal desmoids and their related genetic alterations. Methods: Retrospective cohort study. Demographics, tumor characteristics, oncological and surgical history, complications, genetic-testing, and mortality data were retrieved from two tertiary referral centers. Results: Sixty-two patients were identified (46 FAP and 16 non-FAP). Thirty-eight patients (61.3%) underwent surgical procedures (12 urgent and 26 elective). Out of 33 tumor resections, 39.4% recurred. Hormonal therapy, COX-inhibitors, chemotherapy, imatinib, and sorafenib were used in 35 (56.4%), 30 (48.4%), 18 (29.1%), 7 (11.3%), and 8 (12.9%) of patients, respectively, with a 2 year progression-free survival of 67.8%, 57.7%, 38.4%, and 28.5%, respectively. Forty-one patients (66.1%) suffered complications: bowel obstruction (30.6%), hyperalimentation (14.5%), ureteral obstruction (12.9%), perforation (11.3%), abscess formation (3.2%), and spinal cord compression (3.2%). Non-FAP patients carried pathogenic mutations in CHEK2, BLM, ERCC5, MSH6, and PALB2. Conclusions: Abdominal desmoids are mostly FAP-related and are associated with severe outcomes. We also report a group of non-FAP abdominal desmoids, which includes patients with additional cancer-related gene alterations. This interesting group should be further explored. Full article

(This article belongs to the Special Issue Screening and Genetic Characterization of Colorectal Cancer: A Multi-Step Approach)

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Review

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18 pages, 774 KiB

Open AccessReview

Precision Medicine for Colorectal Cancer with Liquid Biopsy and Immunotherapy

by Satoshi Nagayama, Siew-Kee Low, Kazuma Kiyotani and Yusuke Nakamura

Cancers 2021, 13(19), 4803; https://doi.org/10.3390/cancers13194803 - 25 Sep 2021

Cited by 8 | Viewed by 3091

Abstract

In the field of colorectal cancer (CRC) treatment, diagnostic modalities and chemotherapy regimens have progressed remarkably in the last two decades. However, it is still difficult to identify minimal residual disease (MRD) necessary for early detection of recurrence/relapse of tumors and to select and provide appropriate drugs timely before a tumor becomes multi-drug-resistant and more aggressive. We consider the leveraging of in-depth genomic profiles of tumors as a significant breakthrough to further improve the overall prognosis of CRC patients. With the recent technological advances in methodologies and bioinformatics, the genomic profiles can be analyzed profoundly without delay by blood-based tests—‘liquid biopsies’. From a clinical point of view, a minimally-invasive liquid biopsy is thought to be a promising method and can be implemented in routine clinical settings in order to meet unmet clinical needs. In this review, we highlighted clinical usefulness of liquid biopsies in the clinical management of CRC patients, including cancer screening, detection of MRD, selection of appropriate molecular-targeted drugs, monitoring of the treatment responsiveness, and very early detection of recurrence/relapse of the disease. In addition, we addressed a possibility of adoptive T cell therapies and a future personalized immunotherapy based on tumor genome information. Full article

(This article belongs to the Special Issue Screening and Genetic Characterization of Colorectal Cancer: A Multi-Step Approach)

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