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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: 21 August 2026 | Viewed by 9309

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: autoimmune diseases; infectious diseases; neurological inflammatory diseases; solid organ transplantation
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 250 words) can be sent to the Editorial Office for assessment.

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 (5 papers)

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Research

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14 pages, 1038 KB  
Article
Comparative Analysis of Targeted RNA-Seq and Optical Genome Mapping for Detecting Gene Rearrangements in Acute Leukemia
by Chi Young Ok, Guilin Tang, Sanam Loghavi, Shimin Hu, Qing Wei, Andres E. Quesada, Mark J. Routbort, Rashmi Kanagal-Shamanna, C. Cameron Yin, Iman Sarami, Sofia Garces, Nitin K. Agarwal, Raja Luthra, Hong Fang, Fatima Zahra Jelloul, Julian Bryan, L. Jeffrey Medeiros, Keyur P. Patel and Gokce A. Toruner
Cancers 2025, 17(21), 3458; https://doi.org/10.3390/cancers17213458 - 28 Oct 2025
Viewed by 1269
Abstract
Background/Objectives: Gene rearrangements involving oncogenes are major drivers in acute leukemia, influencing disease classification, prognosis, and therapeutic decision-making. Targeted RNA sequencing (RNA-Seq) panels capable of detecting intergenic and intragenic fusions across multiple genes are increasingly used in diagnostic settings. However, comparative evaluation with [...] Read more.
Background/Objectives: Gene rearrangements involving oncogenes are major drivers in acute leukemia, influencing disease classification, prognosis, and therapeutic decision-making. Targeted RNA sequencing (RNA-Seq) panels capable of detecting intergenic and intragenic fusions across multiple genes are increasingly used in diagnostic settings. However, comparative evaluation with orthogonal technologies remains limited. Material and Methods: We compared the performance of a 108-gene anchored multiplex PCR (AMP)-based RNA-Seq panel with that of Optical Genome Mapping (OGM) in 467 acute leukemia cases. The cohort included 360 cases of acute myeloid leukemia (AML), 89 B-lymphoblastic leukemia (B-ALL), 12 T-lymphoblastic leukemia (T-ALL), and 6 cases of mixed phenotype acute leukemia (MPAL). Results: Results of both methods were concordant in 175 (74.7%) of 234 detected gene/rearrangement fusions. The concordance rate varied significantly across different leukemia types, ranging from 80.2% in B-ALL to 41.7% in T-ALL (p < 0.001) OGM uniquely detected 37 of 234 (15.8%) clinically relevant rearrangements, whereas RNA-Seq exclusively identified 22 of 234 (9.4%). Enhancer-hijacking lesions, including MECOM and BCL11B rearrangements, CDK6::MNX1, and IGH rearrangements, had a markedly lower concordance (20.6%) compared with all other aberrations (93.1%) (p < 0.001). Conversely, some gene fusions arising from intrachromosomal deletions were interpreted by OGM as simple deletions rather than rearrangements or fusions. Conclusions: Targeted RNA-Seq was effective for detecting chimeric fusion transcripts and showed slightly better performance in identifying fusions resulting from deletions. However, OGM was effective for detecting enhancer-hijacking events that do not generate fusion transcripts. Both methods are complementary for the workup of acute leukemia cases. Full article
(This article belongs to the Special Issue Diagnostic Biomarkers in Cancers Study)
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15 pages, 1577 KB  
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
Cited by 10 | Viewed by 2188
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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24 pages, 382 KB  
Review
Selected Potential Biomarkers in Laryngeal Cell Carcinomas
by Roman Paduch, Maria Klatka and Janusz Klatka
Cancers 2026, 18(3), 477; https://doi.org/10.3390/cancers18030477 (registering DOI) - 31 Jan 2026
Abstract
Laryngeal squamous carcinoma is a major type of head and neck cancer. Despite a wide range of treatment options, it remains a challenge to identify which ones are the most effective for which groups of patients. One solution is to analyse selected biomarkers. [...] Read more.
Laryngeal squamous carcinoma is a major type of head and neck cancer. Despite a wide range of treatment options, it remains a challenge to identify which ones are the most effective for which groups of patients. One solution is to analyse selected biomarkers. In this paper, biomarkers are divided into distinctive groups according to the molecular pathways analysed or specific molecules within the cell or in tissue fluids. The paper provides a description of these groups, including genetic and apoptosis-associated factors, factors regulating angiogenesis, cell structure regulators, immune factors in the form of programmed cell death ligand (PD-L1), hormone receptors, molecules involved in growth factor pathways, and cell cycle regulators. Representative examples are discussed for each of these groups, indicating their potential usefulness in staging, assessing tumour aggressiveness, and making a prognosis. Full article
(This article belongs to the Special Issue Diagnostic Biomarkers in Cancers Study)
24 pages, 1325 KB  
Review
Bridging Discovery and Treatment: Cancer Biomarker
by Hengrui Liu, Ilayda Karsidag, Rebecca Golin and Guangzhen Wu
Cancers 2025, 17(22), 3720; https://doi.org/10.3390/cancers17223720 - 20 Nov 2025
Cited by 1 | Viewed by 2052
Abstract
Biomarkers have transformed cancer care by linking molecular insights to personalized treatment strategies. This review first surveys the spectrum of detection modalities, including tissue genomics and histopathology; liquid biopsies such as circulating tumor DNA (ctDNA), circulating tumor cells (CTCs), and extracellular vesicles; imaging [...] Read more.
Biomarkers have transformed cancer care by linking molecular insights to personalized treatment strategies. This review first surveys the spectrum of detection modalities, including tissue genomics and histopathology; liquid biopsies such as circulating tumor DNA (ctDNA), circulating tumor cells (CTCs), and extracellular vesicles; imaging and radiomics; and multi-omic approaches spanning epigenomics, transcriptomics, proteomics, metabolomics, and microbiomics. We then critically appraise the translational challenges that hinder clinical implementation, assay standardization, data integration, analytical and clinical validation, regulatory pathways, and cost-effectiveness. Finally, we explore emerging solutions, including artificial intelligence (AI)-driven multi-modal phenotyping, adaptive trial designs, and point-of-care assays, and outline future directions for expanding access and equitable adoption. By emphasizing the central role of biomarkers in guiding targeted and immune-based therapies, we underscore their potential to overcome tumor heterogeneity, preempt resistance, and ultimately improve patient outcomes. Full article
(This article belongs to the Special Issue Diagnostic Biomarkers in Cancers Study)
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15 pages, 262 KB  
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
Cited by 2 | Viewed by 2997
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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