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Genes
Special Issues
Molecular Diagnostic and Prognostic Markers of Human Cancers
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Molecular Diagnostic and Prognostic Markers of Human Cancers

A special issue of Genes (ISSN 2073-4425). This special issue belongs to the section "Human Genomics and Genetic Diseases".

Deadline for manuscript submissions: 25 January 2025 | Viewed by 2720

Special Issue Editor

Dr. Hilal Arnouk

E-Mail Website
Guest Editor
Department of Pathology, Chicago College of Osteopathic Medicine, Precision Medicine Program, College of Graduate Studies, Midwestern University, Downers Grove, IL 60515, USA
Interests: molecular pathology; molecular diagnostics; precision medicine oncology; cancer immunotherapy

Special Issue Information

Dear Colleagues,

Cancer is a collection of several diseases that contribute significantly to morbidity and mortality worldwide. An accurate diagnosis is critical for detecting malignancies in their initial stages before they metastasize and become resistant to treatment. Precision medicine describes the ability to customize personalized medical care to individual patients through the incorporation of molecular profiles and clinical characteristics in treatment determination utilizing molecular diagnostics and targeted therapies.

Diagnostic and prognostic biomarkers are a valuable tool for cancer screening and for monitoring disease progression and recurrence. Moreover, molecular biomarkers can predict the response or resistance to a certain therapeutic modality along with potential adverse events, thus enabling individualized oncology treatments. Indeed, personalized oncology practices incorporate the clinicopathological parameters and molecular signature of each type of cancer when determining the best option for individual patients' targeted therapies.

Molecular targeted treatments for cancer rely on developing small molecule drugs and monoclonal antibodies that disrupt the cancer cell’s signaling pathways responsible for sustaining proliferative activities, evading growth suppressors, resisting apoptosis, enabling replicative immortality, inducing angiogenesis, and activating invasion and metastasis.

We aim to highlight recent discoveries in the field of molecular diagnostics and the identification of novel molecular targets that fuel the development of innovative targeted therapies for cancer.

Dr. Hilal Arnouk
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. Genes is an international peer-reviewed open access monthly 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 diagnostics
  • molecular pathology
  • precision medicine oncology
  • diagnostic biomarkers
  • prognostic biomarkers
  • therapeutic targets
  • genomics
  • proteomics

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Published Papers (2 papers)

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Research

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14 pages, 1052 KiB  
Article
Associations between Radiomics and Genomics in Non-Small Cell Lung Cancer Utilizing Computed Tomography and Next-Generation Sequencing: An Exploratory Study
by Alessandro Ottaiano, Francesca Grassi, Roberto Sirica, Emanuela Genito, Giovanni Ciani, Vittorio Patanè, Riccardo Monti, Maria Paola Belfiore, Fabrizio Urraro, Mariachiara Santorsola, Alfonso Maria Ponsiglione, Marco Montella, Salvatore Cappabianca, Alfonso Reginelli, Mario Sansone, Giovanni Savarese and Roberta Grassi
Genes 2024, 15(6), 803; https://doi.org/10.3390/genes15060803 - 18 Jun 2024
Viewed by 1206
Abstract
Background: Radiomics, an evolving paradigm in medical imaging, involves the quantitative analysis of tumor features and demonstrates promise in predicting treatment responses and outcomes. This study aims to investigate the predictive capacity of radiomics for genetic alterations in non-small cell lung cancer (NSCLC). [...] Read more.
Background: Radiomics, an evolving paradigm in medical imaging, involves the quantitative analysis of tumor features and demonstrates promise in predicting treatment responses and outcomes. This study aims to investigate the predictive capacity of radiomics for genetic alterations in non-small cell lung cancer (NSCLC). Methods: This exploratory, observational study integrated radiomic perspectives using computed tomography (CT) and genomic perspectives through next-generation sequencing (NGS) applied to liquid biopsies. Associations between radiomic features and genetic mutations were established using the Area Under the Receiver Operating Characteristic curve (AUC-ROC). Machine learning techniques, including Support Vector Machine (SVM) classification, aim to predict genetic mutations based on radiomic features. The prognostic impact of selected gene variants was assessed using Kaplan–Meier curves and Log-rank tests. Results: Sixty-six patients underwent screening, with fifty-seven being comprehensively characterized radiomically and genomically. Predominantly males (68.4%), adenocarcinoma was the prevalent histological type (73.7%). Disease staging is distributed across I/II (38.6%), III (31.6%), and IV (29.8%). Significant correlations were identified with mutations of ROS1 p.Thr145Pro (shape_Sphericity), ROS1 p.Arg167Gln (glszm_ZoneEntropy, firstorder_TotalEnergy), ROS1 p.Asp2213Asn (glszm_GrayLevelVariance, firstorder_RootMeanSquared), and ALK p.Asp1529Glu (glcm_Imc1). Patients with the ROS1 p.Thr145Pro variant demonstrated markedly shorter median survival compared to the wild-type group (9.7 months vs. not reached, p = 0.0143; HR: 5.35; 95% CI: 1.39–20.48). Conclusions: The exploration of the intersection between radiomics and cancer genetics in NSCLC is not only feasible but also holds the potential to improve genetic predictions and enhance prognostic accuracy. Full article
(This article belongs to the Special Issue Molecular Diagnostic and Prognostic Markers of Human Cancers)
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Review

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13 pages, 3573 KiB  
Review
Cornulin as a Key Diagnostic and Prognostic Biomarker in Cancers of the Squamous Epithelium
by Varun Shankavaram, Dean Shah, Aseel Alashqar, Jackson Sweeney and Hilal Arnouk
Genes 2024, 15(9), 1122; https://doi.org/10.3390/genes15091122 - 26 Aug 2024
Viewed by 978
Abstract
The prevalence of squamous cell carcinoma is increasing, and efforts that aid in an early and accurate diagnosis are crucial to improve clinical outcomes for patients. Cornulin, a squamous epithelium-specific protein, has recently garnered attention due to its implications in the progression of [...] Read more.
The prevalence of squamous cell carcinoma is increasing, and efforts that aid in an early and accurate diagnosis are crucial to improve clinical outcomes for patients. Cornulin, a squamous epithelium-specific protein, has recently garnered attention due to its implications in the progression of squamous cell carcinoma developed in several tissues. As an epidermal differentiation marker, it is involved in skin anchoring, regulating cellular proliferation, and is a putative tumor suppressor. The physiologically healthy squamous epithelium displays a considerable level of Cornulin, whereas squamous cell carcinomas have marked downregulation, suggesting that Cornulin expression levels can be utilized for the early detection and follow-up on the progression of these types of cancer. Cornulin’s expression patterns in cervical cancer have been examined, and findings support the stepwise downregulation of Cornulin levels that accompanies the progression to neoplasia in the cervix. Additional studies documented a similar trend in expression in other types of cancer, such as cutaneous, esophageal, and oropharyngeal squamous cell carcinomas. The consistent and predictable pattern of Cornulin expression across several squamous cell carcinomas and its correlation with key clinicopathological parameters make it a reliable biomarker for assessing the transformation and progression events in the squamous epithelium, thus potentially contributing to the early detection, definitive diagnosis, and more favorable prognosis for these cancer patients. Full article
(This article belongs to the Special Issue Molecular Diagnostic and Prognostic Markers of Human Cancers)
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Planned Papers

The below list represents only planned manuscripts. Some of these manuscripts have not been received by the Editorial Office yet. Papers submitted to MDPI journals are subject to peer-review.

Title: The Molecular Biomarker Cornulin and its Diagnostic and Prognostic Utility in Squamous Cell Carcinomas
Authors: -
Affiliation: -
Abstract: The prevalence of squamous cell carcinoma is increasing, and efforts that aid in an earlier diagnosis are crucial to improve prognostic outcomes for patients. Cornulin, a squamous epithelium-specific protein, has recently garnered attention due to its implications in the progression of several types of squamous cell carcinoma. As an epidermal differentiation marker and a member of the fused gene protein family, it is involved in skin anchoring, regulating cellular proliferation, and is a putative tumor suppressor. The physiologically healthy squamous epithelium displays a considerable level of Cornulin, whereas squamous cell carcinomas have marked downregulation, suggesting that Cornulin expression levels can be utilized for early detection and follow up on the development of these types of cancer. Cornulin's expression patterns in cervical cancer have been examined, and numerous findings support the aforementioned differential expression observation. Additional studies suggest a similar change in expression occurs with other types of cancer, such as cutaneous and oropharyngeal squamous cell carcinomas. The consistent and predictable patterns of Cornulin expression across several squamous cell carcinomas make it a reliable biomarker for assessing the transformation and progression events in squamous epithelia. Thus, contributing to the early detection, definitive diagnosis, and accurate prognosis for these cancer patients.

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