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Recent Advances in Colorectal Carcinogenesis and Prevention
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Recent Advances in Colorectal Carcinogenesis and Prevention

A special issue of Journal of Clinical Medicine (ISSN 2077-0383). This special issue belongs to the section "Oncology".

Deadline for manuscript submissions: closed (20 August 2021) | Viewed by 15349

Special Issue Editors

Dr. Toni T. Seppälä

E-Mail Website
Guest Editor
Department of Surgery, Helsinki University Hospital, 00029 Helsinki, Finland
Interests: surgery; surgical oncology; hereditary cancer; colorectal cancer
Prof. Dr. Jukka-Pekka Mecklin

E-Mail Website
Guest Editor
Department of Sports and Health Sciences, University of Jyväskylä, 40620 Jyväskylä, Finland
Interests: colorectal cancer research; hereditary cancer

Special Issue Information

Dear Colleagues,

Recent advances in the research of colorectal carcinogenesis have revealed heterogeneity and individual variation in clinical behavior and therapeutic responses. Molecular characterization into hyper- and non-hypermutated tumors and further subclassification into immune, canonical, metabolic, and mesenchymal type of neoplasms with a wide variation of clinical and prognostic features challenges the present frameworks of care, which are geared toward controlling homogeneous diseases. The methods to measure host immune response in eliminating tumor growth and estimating the tumor’s ability to escape the cytotoxic mechanisms of the body have recently opened new therapeutic avenues and created new prognostic biomarkers. It is quite likely that carcinogenetic circumstances vary in different parts of the large bowel. Proximal colon is derived from the midgut and distal part from the hindgut, which seems to modify the molecular genetic landscape of the developing tumors. Additionally, the activity and distribution of the microbiome correlate to the location. Blood-based biomarkers have taken significant leaps forward, providing tools for early detection and monitoring minimal residual disease after therapy.

The primary prevention of colorectal cancer in risk groups has recently achieved important steps toward clinical practice. The long-term results of aspirin chemoprevention have recently been published, and vaccine-based reinforcing of the immune system is already at the stage of preliminary clinical tests in Lynch syndrome.

 

In this Special Issue, JCM will publish a representative collection of manuscripts (reviews and original studies) comprising the aforementioned aspects in colorectal carcinogenesis.

Dr. Toni T. Seppälä
Prof. Dr. Jukka-Pekka Mecklin
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 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. Journal of Clinical Medicine 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 2600 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

  • cancer biomarkers
  • tumor microenvironment
  • cell-free DNA
  • gut microbiome
  • carcinogenesis
  • cancer prevention

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Published Papers (3 papers)

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Research

12 pages, 1138 KiB  
Article
No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study
by Mev Dominguez-Valentin, John-Paul Plazzer, Julian R. Sampson, Christoph Engel, Stefan Aretz, Mark A. Jenkins, Lone Sunde, Inge Bernstein, Gabriel Capella, Francesc Balaguer, Finlay Macrae, Ingrid M. Winship, Huw Thomas, Dafydd Gareth Evans, John Burn, Marc Greenblatt, Wouter H. de Vos tot Nederveen Cappel, Rolf H. Sijmons, Maartje Nielsen, Lucio Bertario, Bernardo Bonanni, Maria Grazia Tibiletti, Giulia Martina Cavestro, Annika Lindblom, Adriana Della Valle, Francisco Lopez-Kostner, Karin Alvarez, Nathan Gluck, Lior Katz, Karl Heinimann, Carlos A. Vaccaro, Sigve Nakken, Eivind Hovig, Kate Green, Fiona Lalloo, James Hill, Hans F. A. Vasen, Claudia Perne, Reinhard Büttner, Heike Görgens, Elke Holinski-Feder, Monika Morak, Stefanie Holzapfel, Robert Hüneburg, Magnus von Knebel Doeberitz, Markus Loeffler, Nils Rahner, Jürgen Weitz, Verena Steinke-Lange, Wolff Schmiegel, Deepak Vangala, Emma J. Crosbie, Marta Pineda, Matilde Navarro, Joan Brunet, Leticia Moreira, Ariadna Sánchez, Miquel Serra-Burriel, Miriam Mints, Revital Kariv, Guy Rosner, Tamara Alejandra Piñero, Walter Hernán Pavicic, Pablo Kalfayan, Sanne W. ten Broeke, Jukka-Pekka Mecklin, Kirsi Pylvänäinen, Laura Renkonen-Sinisalo, Anna Lepistö, Päivi Peltomäki, John L. Hopper, Aung Ko Win, Daniel D. Buchanan, Noralane M. Lindor, Steven Gallinger, Loïc Le Marchand, Polly A. Newcomb, Jane C. Figueiredo, Stephen N. Thibodeau, Christina Therkildsen, Thomas V. O. Hansen, Lars Lindberg, Einar Andreas Rødland, Florencia Neffa, Patricia Esperon, Douglas Tjandra, Gabriela Möslein, Toni T. Seppälä and Pål Mølleradd Show full author list remove Hide full author list
J. Clin. Med. 2021, 10(13), 2856; https://doi.org/10.3390/jcm10132856 - 28 Jun 2021
Cited by 14 | Viewed by 5802
Abstract
Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. [...] Read more.
Background. Lynch syndrome is the most common genetic predisposition for hereditary cancer. Carriers of pathogenic changes in mismatch repair (MMR) genes have an increased risk of developing colorectal (CRC), endometrial, ovarian, urinary tract, prostate, and other cancers, depending on which gene is malfunctioning. In Lynch syndrome, differences in cancer incidence (penetrance) according to the gene involved have led to the stratification of cancer surveillance. By contrast, any differences in penetrance determined by the type of pathogenic variant remain unknown. Objective. To determine cumulative incidences of cancer in carriers of truncating and missense or aberrant splicing pathogenic variants of the MLH1 and MSH2 genes. Methods. Carriers of pathogenic variants of MLH1 (path_MLH1) and MSH2 (path_MSH2) genes filed in the Prospective Lynch Syndrome Database (PLSD) were categorized as truncating or missense/aberrant splicing according to the InSiGHT criteria for pathogenicity. Results. Among 5199 carriers, 1045 had missense or aberrant splicing variants, and 3930 had truncating variants. Prospective observation years for the two groups were 8205 and 34,141 years, respectively, after which there were no significant differences in incidences for cancer overall or for colorectal cancer or endometrial cancers separately. Conclusion. Truncating and missense or aberrant splicing pathogenic variants were associated with similar average cumulative incidences of cancer in carriers of path MLH1 and path_MSH2. Full article
(This article belongs to the Special Issue Recent Advances in Colorectal Carcinogenesis and Prevention)
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17 pages, 2996 KiB  
Article
Distinct Mutational Profile of Lynch Syndrome Colorectal Cancers Diagnosed under Regular Colonoscopy Surveillance
by Aysel Ahadova, Pauline Luise Pfuderer, Maarit Ahtiainen, Alexej Ballhausen, Lena Bohaumilitzky, Svenja Kösegi, Nico Müller, Yee Lin Tang, Kosima Kosmalla, Johannes Witt, Volker Endris, Albrecht Stenzinger, Magnus von Knebel Doeberitz, Hendrik Bläker, Laura Renkonen-Sinisalo, Anna Lepistö, Jan Böhm, Jukka-Pekka Mecklin, Toni T. Seppälä and Matthias Kloor
J. Clin. Med. 2021, 10(11), 2458; https://doi.org/10.3390/jcm10112458 - 1 Jun 2021
Cited by 6 | Viewed by 4611
Abstract
Regular colonoscopy even with short intervals does not prevent all colorectal cancers (CRC) in Lynch syndrome (LS). In the present study, we asked whether cancers detected under regular colonoscopy surveillance (incident cancers) are phenotypically different from cancers detected at first colonoscopy (prevalent cancers). [...] Read more.
Regular colonoscopy even with short intervals does not prevent all colorectal cancers (CRC) in Lynch syndrome (LS). In the present study, we asked whether cancers detected under regular colonoscopy surveillance (incident cancers) are phenotypically different from cancers detected at first colonoscopy (prevalent cancers). We analyzed clinical, histological, immunological and mutational characteristics, including panel sequencing and high-throughput coding microsatellite (cMS) analysis, in 28 incident and 67 prevalent LS CRCs (n total = 95). Incident cancers presented with lower UICC and T stage compared to prevalent cancers (p < 0.0005). The majority of incident cancers (21/28) were detected after previous colonoscopy without any pathological findings. On the molecular level, incident cancers presented with a significantly lower KRAS codon 12/13 (1/23, 4.3% vs. 11/21, 52%; p = 0.0005) and pathogenic TP53 mutation frequency (0/17, 0% vs. 7/21, 33.3%; p = 0.0108,) compared to prevalent cancers; 10/17 (58.8%) incident cancers harbored one or more truncating APC mutations, all showing mutational signatures of mismatch repair (MMR) deficiency. The proportion of MMR deficiency-related mutational events was significantly higher in incident compared to prevalent CRC (p = 0.018). In conclusion, our study identifies a set of features indicative of biological differences between incident and prevalent cancers in LS, which should further be monitored in prospective LS screening studies to guide towards optimized prevention protocols. Full article
(This article belongs to the Special Issue Recent Advances in Colorectal Carcinogenesis and Prevention)
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13 pages, 719 KiB  
Article
Impact of Age and Comorbidity on Multimodal Management and Survival from Colorectal Cancer: A Population-Based Study
by Ilmo Kellokumpu, Matti Kairaluoma, Jukka-Pekka Mecklin, Henrik Kellokumpu, Ville Väyrynen, Erkki-Ville Wirta, Eero Sihvo, Teijo Kuopio and Toni T. Seppälä
J. Clin. Med. 2021, 10(8), 1751; https://doi.org/10.3390/jcm10081751 - 17 Apr 2021
Cited by 19 | Viewed by 4141
Abstract
This retrospective population-based study examined the impact of age and comorbidity burden on multimodal management and survival from colorectal cancer (CRC). From 2000 to 2015, 1479 consecutive patients, who underwent surgical resection for CRC, were reviewed for age-adjusted Charlson comorbidity index (ACCI) including [...] Read more.
This retrospective population-based study examined the impact of age and comorbidity burden on multimodal management and survival from colorectal cancer (CRC). From 2000 to 2015, 1479 consecutive patients, who underwent surgical resection for CRC, were reviewed for age-adjusted Charlson comorbidity index (ACCI) including 19 well-defined weighted comorbidities. The impact of ACCI on multimodal management and survival was compared between low (score 0–2), intermediate (score 3) and high ACCI (score ≥ 4) groups. Changes in treatment from 2000 to 2015 were seen next to a major increase of laparoscopic surgery, increased use of adjuvant chemotherapy and an intensified treatment of metastatic disease. Patients with a high ACCI score were, by definition, older and had higher comorbidity. Major elective and emergency resections for colon carcinoma were evenly performed between the ACCI groups, as were laparoscopic and open resections. (Chemo)radiotherapy for rectal carcinoma was less frequently used, and a higher rate of local excisions, and consequently lower rate of major elective resections, was performed in the high ACCI group. Adjuvant chemotherapy and metastasectomy were less frequently used in the ACCI high group. Overall and cancer-specific survival from stage I-III CRC remained stable over time, but survival from stage IV improved. However, the 5-year overall survival from stage I–IV colon and rectal carcinoma was worse in the high ACCI group compared to the low ACCI group. Five-year cancer-specific and disease-free survival rates did not differ significantly by the ACCI. Cox proportional hazard analysis showed that high ACCI was an independent predictor of poor overall survival (p < 0.001). Our results show that despite improvements in multimodal management over time, old age and high comorbidity burden affect the use of adjuvant chemotherapy, preoperative (chemo)radiotherapy and management of metastatic disease, and worsen overall survival from CRC. Full article
(This article belongs to the Special Issue Recent Advances in Colorectal Carcinogenesis and Prevention)
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