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Cancers
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Diagnostic Biomarkers in Cancers Study
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Diagnostic Biomarkers in Cancers Study

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

Deadline for manuscript submissions: 31 October 2025 | Viewed by 1458

Special Issue Editors

Dr. Zejuan Li

E-Mail Website
Guest Editor
Institute for Academic Medicine, Houston Methodist Research Institute, Weill Cornell Medical College, Houston Methodist Hospital, Houston, TX 77030, USA
Interests: cancer; diagnostics; biomarker
Special Issues, Collections and Topics in MDPI journals
Dr. Xin Yi

E-Mail Website
Guest Editor
1. Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, TX 77030, USA
2. Department of Pathology and Laboratory Medicine, Weill Cornell Medical College, New York, NY 10065, USA
Interests: clinical diagnostics; cancer; laboratory medicine; population health
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue focuses on recent advancements and challenges in identifying and utilizing diagnostic biomarkers for cancer. Biomarkers—including genetic, epigenetic, proteomic, and metabolomic markers—are crucial for early detection, patient stratification, and personalized medicine. The collected research highlights the discovery and validation of novel biomarkers for various cancers and cancer-related diseases, as well as emerging technologies such as liquid biopsies and machine learning-based approaches that enhance detection accuracy. Key topics include the clinical translation of biomarkers and addressing challenges related to regulation, standardization, and cost-effectiveness. Articles emphasize how integrating biomarkers into existing diagnostic protocols can improve precision in cancer care. Moreover, the issue explores the role of biomarkers in personalized medicine, offering insights into patient-specific treatment responses and therapeutic strategies. Overall, this Special Issue provides a comprehensive understanding of how advancements in biomarkers can revolutionize disease diagnostics, enhance patient outcomes, and propel the field of precision oncology forward.

Dr. Zejuan Li
Dr. Xin Yi
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

  • cancer
  • diagnostics
  • biomarker

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Published Papers (2 papers)

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Research

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15 pages, 1577 KiB  
Article
Clinical Utility of Optical Genome Mapping as an Additional Tool in a Standard Cytogenetic Workup in Hematological Malignancies
by Gokce A. Toruner, Shimin Hu, Sanam Loghavi, Chi Young OK, Zhenya Tang, Qing Wei, Rashmi Kanagal-Shamanna, L. Jeffrey Medeiros and Guilin Tang
Cancers 2025, 17(9), 1436; https://doi.org/10.3390/cancers17091436 - 25 Apr 2025
Viewed by 188
Abstract
Background and Objective: The primary objective of this study is to evaluate the added value of optical genome mapping (OGM) when integrated into the standard cytogenetic workup (SCGW) for hematological malignancies. Methods: The study cohort comprised 519 cases with different types of hematological [...] Read more.
Background and Objective: The primary objective of this study is to evaluate the added value of optical genome mapping (OGM) when integrated into the standard cytogenetic workup (SCGW) for hematological malignancies. Methods: The study cohort comprised 519 cases with different types of hematological malignancies. OGM and SCGW (including G-banded karyotyping and fluorescence in situ hybridization) were performed on blood and/or bone marrow. The analytical sensitivity of OGM, defined as the detection of all additional cytogenomic aberrations, and its clinical utility, referring to aberrations with diagnostic, prognostic, or therapeutic significance, were assessed. Results: OGM led to increased analytical sensitivity and clinical utility in 58% and 15% of the cases, respectively. The clinical utility varied across different malignancies, with the highest utility in T-lymphoblast leukemia (52%), followed by mixed phenotype acute leukemia (43%), B-lymphoblastic leukemia (37%), other B-cell lymphomas (22%), mature T-cell leukemia/lymphoma (20%), chronic lymphocytic leukemia (14%), acute myeloid leukemia (13%), multiple myeloma (13%), mantle cell lymphoma (8%), myelodysplastic/myeloproliferative neoplasms (6%), myelodysplastic syndrome (5%), and myeloproliferative neoplasms (0%). Conclusion: Compared to SCGW, OGM detects additional cytogenomic aberrations in approximately 58% of cases. OGM provides clinical utility at varying rates across different types of hematological malignancies. Given these differences, strategic triaging can help maximize the clinical value of OGM by focusing on diseases where it offers the most significant benefit. Full article
(This article belongs to the Special Issue Diagnostic Biomarkers in Cancers Study)
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Review

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15 pages, 262 KiB  
Review
Molecular Biomarkers in Borderline Ovarian Tumors: Towards Personalized Treatment and Prognostic Assessment
by Stefania Drymiotou, Efthymia Theodorou, Kathrine Sofia Rallis, Marios Nicolaides and Michail Sideris
Cancers 2025, 17(3), 545; https://doi.org/10.3390/cancers17030545 - 6 Feb 2025
Viewed by 860
Abstract
Borderline Ovarian Tumours (BOTs) are a heterogenous group of ovarian neoplasms which have increased mitotic activity but lack stromal invasion. We performed a narrative review of the literature, aiming to identify prognostic molecular biomarkers that can potentially be used for treatment personalisation. We [...] Read more.
Borderline Ovarian Tumours (BOTs) are a heterogenous group of ovarian neoplasms which have increased mitotic activity but lack stromal invasion. We performed a narrative review of the literature, aiming to identify prognostic molecular biomarkers that can potentially be used for treatment personalisation. We identified and discussed BRAF/KRAS, Cancer Antigen 125 (Ca 125), Calprotectin, p16ink4a, and Microsatellite instability (MSI) as the most studied biomarkers related to BOTs. Overall, BRAF and KRAS mutations are associated with earlier-stage and favourable prognosis; KRASmt may indicate extraovarian disease in serous BOT (sBOT). Ca125, the only currently clinically used biomarker, can be assessed pre-operatively and has an established role in post-operative surveillance, especially when it is raised pre-operatively or a high potential for malignant transformation is suspected post-operatively. p16ink4a expression trends could also indicate the malignant transformation of the tumour. Calprotectin has an inferior specificity to Ca125 and is not yet established as a biomarker, whilst there is very limited evidence available for MSI. As new evidence is coming along with artificial intelligence platforms, these biomarkers can be integrated and used towards the development of a precision model for treatment stratification and counselling in women diagnosed with BOTs. Full article
(This article belongs to the Special Issue Diagnostic Biomarkers in Cancers Study)
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