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Diagnostics
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Recent Advancements of Molecular Biomarkers in Cancer
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Recent Advancements of Molecular Biomarkers in Cancer

A special issue of Diagnostics (ISSN 2075-4418). This special issue belongs to the section "Pathology and Molecular Diagnostics".

Deadline for manuscript submissions: closed (31 January 2025) | Viewed by 9285

Special Issue Editor

Dr. Giuseppe Nicolò Fanelli

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Guest Editor
Department of Translational Research and New Technologies in Medicine and Surgery, University of Pisa, 56126 Pisa, Italy
Interests: breast cancer; urogenital cancers; neuropathology; molecular pathology; digital pathology; tumor microenvironment
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

This Special Issue focuses on recent advancements in molecular biomarkers in cancer. Cancer is a complex disease, and biomarkers are crucial tools for its diagnosis, prognosis, and monitoring. This Special Issue aims to provide a comprehensive overview of the latest breakthroughs in this field, concentrating on molecular biomarkers that hold significant potential for improving cancer detection, treatment, and patient outcomes. 

The scope of this Special Issue encompasses various aspects of molecular biomarkers in cancer research. It includes advancements in identifying and characterizing novel cancer-specific biomarkers, elucidating their role in tumorigenesis, and assessing their clinical utility. Importantly, this Special Issue will delve into cutting-edge technologies and techniques used for biomarker discovery and validation. This will encompass next-generation sequencing, proteomics, metabolomics, and other high-throughput approaches that enable the identification of promising biomarker candidates. 

Moreover, this Special Issue will also explore the role of molecular biomarkers in personalized medicine and precision oncology. It will shed light on how these biomarkers can guide treatment decisions, predict therapy response, and improve patient stratification. Additionally, this Special Issue will include discussions on the challenges associated with translating biomarker discoveries into actionable clinical applications, emphasizing the need for robust validation studies and harmonized regulatory frameworks. 

Overall, this Special Issue serves as a platform for researchers and clinicians to access the latest advancements in molecular biomarkers in cancer, driving the development of more effective and tailored approaches for cancer management.

Dr. Giuseppe Nicolò Fanelli
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. Diagnostics 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

  • molecular biomarkers
  • cancer research
  • precision medicine
  • tumor profiling
  • genomic signatures
  • personalized oncology
  • biomarker discovery

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Published Papers (5 papers)

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Research

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15 pages, 2155 KiB  
Article
Plasma Circulating lncRNAs: MALAT1 and NEAT1 as Biomarkers of Radiation-Induced Adverse Effects in Laryngeal Cancer Patients
by Marcin Mazurek, Anna Brzozowska, Teresa Małecka-Massalska and Tomasz Powrózek
Diagnostics 2025, 15(6), 676; https://doi.org/10.3390/diagnostics15060676 - 10 Mar 2025
Viewed by 574
Abstract
Background: The majority of head and neck cancers (HNCs) occur in the larynx. In clinical practice, adverse effects are frequently observed in laryngeal cancer (LC) patients undergoing radiotherapy (RT). Therefore, investigating markers that can predict these unfavorable events is of interest. Long [...] Read more.
Background: The majority of head and neck cancers (HNCs) occur in the larynx. In clinical practice, adverse effects are frequently observed in laryngeal cancer (LC) patients undergoing radiotherapy (RT). Therefore, investigating markers that can predict these unfavorable events is of interest. Long non-coding RNAs (lncRNAs) have emerged as potential biomarkers for the early identification of patients susceptible to post-RT toxicity. MALAT1 and NEAT1 regulate various cellular processes, the inflammatory response, and resistance to anti-cancer treatments; however, their impact on the portability of post-RT adverse effects remains unknown. The aim of this study was to evaluate the clinical value of two plasma-circulating lncRNAs, MALAT1 and NEAT1, as predictive biomarkers for post-RT adverse effects in LC patients. Methods: The expression levels of the studied lncRNAs were determined using real-time quantitative reverse transcription PCR (qRT-PCR) in plasma samples obtained from 70 LC patients before the initiation of RT. These levels were then correlated with patient outcomes. Results: A low expression of MALAT1 was associated with a significantly higher probability of anemia, liver failure, and severe malnutrition (OR = 5.36; p = 0.040, OR = 6.07; p = 0.037, OR = 9.75; p < 0.001, respectively) after the completion of RT. Similarly, patients with low NEAT1 expression had a significantly higher risk of anemia, liver failure, and mild or severe malnutrition (OR = 5.26; p = 0.020, OR = 5.70; p = 0.016, OR = 13.09; p = 0.002, respectively). Simultaneous lower expression levels of both lncRNAs were significantly associated with shorter median overall survival (OS) in RT-treated LC patients (HR = 5.44; p = 0.001). Conclusions: The analysis of MALAT1 and NEAT1 expression indicates clinical utility in predicting toxic events induced by RT-based therapy. Full article
(This article belongs to the Special Issue Recent Advancements of Molecular Biomarkers in Cancer)
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11 pages, 840 KiB  
Article
Ultrashort Cell-Free DNA Fragments and Vimentin-Positive Circulating Tumor Cells for Predicting Early Recurrence in Patients with Biliary Tract Cancer
by Sung Hee Park, Hye Ji Lee, Tae In Kim, Jonghyun Lee, Sung Yong Han, Hyung Il Seo and Dong Uk Kim
Diagnostics 2024, 14(21), 2462; https://doi.org/10.3390/diagnostics14212462 - 4 Nov 2024
Viewed by 1055
Abstract
Background/Objectives: Biliary tract cancer (BTC) is a rare but aggressive malignancy that requires surgical treatment. However, postoperative recurrence rates are high, and reliable predictors of recurrence are limited. This study aimed to investigate the effectiveness of cell-free DNA (cfDNA) and circulating tumor cells [...] Read more.
Background/Objectives: Biliary tract cancer (BTC) is a rare but aggressive malignancy that requires surgical treatment. However, postoperative recurrence rates are high, and reliable predictors of recurrence are limited. This study aimed to investigate the effectiveness of cell-free DNA (cfDNA) and circulating tumor cells (CTCs) in predicting early recurrence after curative surgery and complete adjuvant therapy in patients with BTC. Methods: Twenty-four patients who underwent R0 and R1 resections and completed adjuvant therapy for BTC between September 2019 and March 2022 were followed up until March 2024. Patients were categorized into early recurrence (ER) and non-ER groups, using one year as the cutoff for recurrence. Results: The combination score derived from ultrashort fragments of cfDNA, vimentin-positive CTCs, and carbohydrate antigen (CA) 19-9 levels showed a statistically significant difference between the ER and non-ER groups (p-value < 0.001). The receiver operating characteristic curve from the combination score and CA 19-9 levels yielded areas under the curve of 0.891 and 0.750, respectively. Conclusions: Although further research is required, these findings suggest that cfDNA and CTCs may increase the accuracy of predicting postoperative recurrence in patients with BTC. Full article
(This article belongs to the Special Issue Recent Advancements of Molecular Biomarkers in Cancer)
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10 pages, 279 KiB  
Article
A Dunnett-Type Test and Its Sample Size Calculation for Comparing K ROC Curves with a Control
by Sin-Ho Jung
Diagnostics 2024, 14(16), 1813; https://doi.org/10.3390/diagnostics14161813 - 20 Aug 2024
Viewed by 1291
Abstract
Diagnostic biomarkers are key components of diagnostics. In this paper, we consider diagnostic biomarkers taking continuous values that are associated with a dichotomous disease status, called malignant or benign. The performance of such a biomarker is evaluated by the area under the curve [...] Read more.
Diagnostic biomarkers are key components of diagnostics. In this paper, we consider diagnostic biomarkers taking continuous values that are associated with a dichotomous disease status, called malignant or benign. The performance of such a biomarker is evaluated by the area under the curve (AUC) of its receiver operating characteristic curve. We assume that, together with the disease status, one control and multiple experimental biomarkers are collected from each subject to test if any of the experimental biomarkers have a larger AUC than the control. In this case, each experimental biomarker will be compared with the control so that a multiple testing issue is involved in the comparisons. In this paper, we propose a simple non-parametric statistical testing procedure to compare K(≥2) experimental biomarkers with a control, adjusting for the multiplicity and its sample size calculation method. Our sample size formula requires the specification of the AUC values (or the standardized effect size of each biomarker between the benign and malignant groups) together with the correlation coefficients between the biomarkers, the prevalence of the malignant group in the study population, the type I error rate, and the power. Through simulations, we show that the statistical test controls the overall type I error rate accurately and the proposed sample size closely maintains the specified statistical power. Full article
(This article belongs to the Special Issue Recent Advancements of Molecular Biomarkers in Cancer)

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41 pages, 3245 KiB  
Review
Recent Advances in Biosensor Technology for Early-Stage Detection of Hepatocellular Carcinoma-Specific Biomarkers: An Overview
by Raja Chinnappan, Tariq Makhzoum, Momo Arai, Amro Hajja, Farah Abul Rub, Ibrahim Alodhaibi, Mohammed Alfuwais, Muhammad Affan Elahi, Eman Abdullah Alshehri, Lohit Ramachandran, Naresh Kumar Mani, Shugufta Abrahim, Mohammad Shabab Mir, Khaled Al-Kattan, Tanveer Ahmad Mir and Ahmed Yaqinuddin
Diagnostics 2024, 14(14), 1519; https://doi.org/10.3390/diagnostics14141519 - 15 Jul 2024
Cited by 3 | Viewed by 3243
Abstract
Hepatocellular carcinoma is currently the most common malignancy of the liver. It typically occurs due to a series of oncogenic mutations that lead to aberrant cell replication. Most commonly, hepatocellular carcinoma (HCC) occurs as a result of pre-occurring liver diseases, such as hepatitis [...] Read more.
Hepatocellular carcinoma is currently the most common malignancy of the liver. It typically occurs due to a series of oncogenic mutations that lead to aberrant cell replication. Most commonly, hepatocellular carcinoma (HCC) occurs as a result of pre-occurring liver diseases, such as hepatitis and cirrhosis. Given its aggressive nature and poor prognosis, the early screening and diagnosis of HCC are crucial. However, due to its plethora of underlying risk factors and pathophysiologies, patient presentation often varies in the early stages, with many patients presenting with few, if any, specific symptoms in the early stages. Conventionally, screening and diagnosis are performed through radiological examination, with diagnosis confirmed by biopsy. Imaging modalities tend to be limited by their requirement of large, expensive equipment; time-consuming operation; and a lack of accurate diagnosis, whereas a biopsy’s invasive nature makes it unappealing for repetitive use. Recently, biosensors have gained attention for their potential to detect numerous conditions rapidly, cheaply, accurately, and without complex equipment and training. Through their sensing platforms, they aim to detect various biomarkers, such as nucleic acids, proteins, and even whole cells extracted by a liquid biopsy. Numerous biosensors have been developed that may detect HCC in its early stages. We discuss the recent updates in biosensing technology, highlighting its competitive potential compared to conventional methodology and its prospects as a tool for screening and diagnosis. Full article
(This article belongs to the Special Issue Recent Advancements of Molecular Biomarkers in Cancer)
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21 pages, 835 KiB  
Review
Synthesis and Regulation of miRNA, Its Role in Oncogenesis, and Its Association with Colorectal Cancer Progression, Diagnosis, and Prognosis
by Monika Rac
Diagnostics 2024, 14(13), 1450; https://doi.org/10.3390/diagnostics14131450 - 7 Jul 2024
Cited by 1 | Viewed by 1974
Abstract
The dysfunction of several types of regulators, including miRNAs, has recently attracted scientific attention for their role in cancer-associated changes in gene expression. MiRNAs are small RNAs of ~22 nt in length that do not encode protein information but play an important role [...] Read more.
The dysfunction of several types of regulators, including miRNAs, has recently attracted scientific attention for their role in cancer-associated changes in gene expression. MiRNAs are small RNAs of ~22 nt in length that do not encode protein information but play an important role in post-transcriptional mRNA regulation. Studies have shown that miRNAs are involved in tumour progression, including cell proliferation, cell cycle, apoptosis, and tumour angiogenesis and invasion, and play a complex and important role in the regulation of tumourigenesis. The detection of selected miRNAs may help in the early detection of cancer cells, and monitoring changes in their expression profile may serve as a prognostic factor in the course of the disease or its treatment. MiRNAs may serve as diagnostic and prognostic biomarkers, as well as potential therapeutic targets for colorectal cancer. In recent years, there has been increasing evidence for an epigenetic interaction between DNA methylation and miRNA expression in tumours. This article provides an overview of selected miRNAs, which are more frequently expressed in colorectal cancer cells, suggesting an oncogenic nature. Full article
(This article belongs to the Special Issue Recent Advancements of Molecular Biomarkers in Cancer)
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