Biomarkers in Solid Tumors: From Molecular Discovery via Screening Technology Development to Clinical Practice

A special issue of Cancers (ISSN 2072-6694). This special issue belongs to the section "Methods and Technologies Development".

Deadline for manuscript submissions: closed (31 March 2023) | Viewed by 4685

Special Issue Editors


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Guest Editor
1. Ingham Institute for Applied Medical Research, Liverpool, NSW 2170, Australia
2. School of Medicine, Western Sydney University, Campbelltown, NSW 2560, Australia
3. South Western Clinical School, University of New South Wales, Liverpool, NSW 2170, Australia
Interests: liquid biopsy; biomarker detection; circulating tumor cell
Special Issues, Collections and Topics in MDPI journals
Department of Medical Oncology, Ingham Institute of Applied Medical Research, Liverpool, NSW 2170, Australia
Interests: liquid biopsy; cancer biomarkers; circulating tumor cells; cancer cell biology; molecular biology

Special Issue Information

Dear Colleagues,

With the advances in understanding pathways that “drive” cancer and the identification of actionable and prognostic biomarkers, a more personalized treatment regimen is now available for many cancer types. However, there is still a clinical need to screen for novel diagnostic and prognostic biomarkers with high specificity and sensitivity, and liquid biopsy has been hailed as an attractive source of cancer biomarker information. Moreover, using liquid biopsy may allow monitoring response to therapy and detecting minimal residual disease to guide best therapy.

Nevertheless, the entry of liquid biopsy analysis into clinical settings is slow, and this Special Issue explores aspects of biomarker discovery as well as the establishment of technology and practical assays for their ultimately diagnostic screening in liquid biopsies with a focus on clinical utility.

The scope of the Special Issue is broad and covers studies in all cancers (original articles and reviews) conducted on experimental tumor cell and animal models, tissue samples, and liquid biopsies from cancer patients.

We look forward to receiving your contributions.

Dr. Therese Becker
Dr. Yafeng Ma
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. 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

  • liquid biopsy
  • biomarker
  • cancer
  • minimal residual disease
  • treatment response

Published Papers (3 papers)

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15 pages, 4189 KiB  
Article
Chemoresistive Nanosensors Employed to Detect Blood Tumor Markers in Patients Affected by Colorectal Cancer in a One-Year Follow Up
by Michele Astolfi, Giorgio Rispoli, Gabriele Anania, Giulia Zonta and Cesare Malagù
Cancers 2023, 15(6), 1797; https://doi.org/10.3390/cancers15061797 - 16 Mar 2023
Cited by 2 | Viewed by 1280
Abstract
Colorectal cancer (CRC) represents 10% of the annual tumor diagnosis and deaths occurring worldwide. Given the lack of specific symptoms, which could determine a late diagnosis, the research for specific CRC biomarkers and for innovative low-invasive methods to detect them is crucial. Therefore, [...] Read more.
Colorectal cancer (CRC) represents 10% of the annual tumor diagnosis and deaths occurring worldwide. Given the lack of specific symptoms, which could determine a late diagnosis, the research for specific CRC biomarkers and for innovative low-invasive methods to detect them is crucial. Therefore, on the basis of previously published results, some volatile organic compounds (VOCs), detectable through gas sensors, resulted in particularly promising CRC biomarkers, making these sensors suitable candidates to be employed in CRC screening devices. A new device was employed here to analyze the exhalations of blood samples collected from CRC-affected patients at different stages of their pre- and post-surgery therapeutic path, in order to assess the sensor’s capability for discriminating among these samples. The stages considered were: the same day of the surgical treatment (T1); before the hospital discharge (T2); after one month and after 10–12 months from surgery (T3 and T4, respectively). This device, equipped with four different sensors based on different metal–oxide mixtures, enabled a distinction between T1 and T4 with a sensitivity and specificity of 93% and 82%, respectively, making it suitable for clinical follow-up protocols, patient health status monitoring and to detect possible post-treatment relapses. Full article
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18 pages, 3587 KiB  
Article
Explainable AI for Estimating Pathogenicity of Genetic Variants Using Large-Scale Knowledge Graphs
by Shuya Abe, Shinichiro Tago, Kazuaki Yokoyama, Miho Ogawa, Tomomi Takei, Seiya Imoto and Masaru Fuji
Cancers 2023, 15(4), 1118; https://doi.org/10.3390/cancers15041118 - 09 Feb 2023
Cited by 3 | Viewed by 2114
Abstract
Background: To treat diseases caused by genetic variants, it is necessary to identify disease-causing variants in patients. However, since there are a large number of disease-causing variants, the application of AI is required. We propose AI to solve this problem and report the [...] Read more.
Background: To treat diseases caused by genetic variants, it is necessary to identify disease-causing variants in patients. However, since there are a large number of disease-causing variants, the application of AI is required. We propose AI to solve this problem and report the results of its application in identifying disease-causing variants. Methods: To assist physicians in their task of identifying disease-causing variants, we propose an explainable AI (XAI) that combines high estimation accuracy with explainability using a knowledge graph. We integrated databases for genomic medicine and constructed a large knowledge graph that was used to achieve the XAI. Results: We compared our XAI with random forests and decision trees. Conclusion: We propose an XAI that uses knowledge graphs for explanation. The proposed method achieves high estimation performance and explainability. This will support the promotion of genomic medicine. Full article
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6 pages, 211 KiB  
Opinion
ARID1B Immunohistochemistry Is an Important Test for the Diagnosis of Dedifferentiated and Undifferentiated Gynecologic Malignancies
by Basile Tessier-Cloutier
Cancers 2023, 15(17), 4229; https://doi.org/10.3390/cancers15174229 - 24 Aug 2023
Viewed by 851
Abstract
Dedifferentiated and undifferentiated endometrial and ovarian carcinomas (DDC/UDC) are aggressive malignancies defined by morphologic and molecular undifferentiation, and associated with core SWI/SNF deficiency. Their main differential diagnoses include high-grade endometrial and ovarian carcinomas that often show overlapping morphologic and molecular profiles. Loss of [...] Read more.
Dedifferentiated and undifferentiated endometrial and ovarian carcinomas (DDC/UDC) are aggressive malignancies defined by morphologic and molecular undifferentiation, and associated with core SWI/SNF deficiency. Their main differential diagnoses include high-grade endometrial and ovarian carcinomas that often show overlapping morphologic and molecular profiles. Loss of cell lineage markers expression by immunohistochemistry (IHC) is commonly used to assist diagnosis, but it has poor specificity, while core SWI/SNF deficiency is much more specific. Approximately half of SWI/SNF-deficient DDC/UDC are associated with loss of ARID1B expression, yet, unlike the other core SWI/SNF proteins (SMARCA4 and SMARCB1), this test is rarely available, even in tertiary centers. Mutational testing for ARID1B is increasingly common among targeted DNA sequencing panels, but it is difficult to interpret in the absence of IHC results. Overall, the importance of including ARID1B IHC as part of the routine panel for undifferentiated gynecologic malignancies should be emphasized, especially as SWI/SNF inactivation is becoming a necessary biomarker for diagnostics, clinical management, and clinical trial enrollment. Full article
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