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Cancers
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Advances in Genetic and Molecular Approaches to Skin Cancer
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Advances in Genetic and Molecular Approaches to Skin Cancer

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

Deadline for manuscript submissions: 30 June 2025 | Viewed by 5777

Special Issue Editor

Dr. Egle Ramelyte

E-Mail Website
Guest Editor
Department of Dermatology, University Hospital Zurich, 8091 Zurich, Switzerland
Interests: skin cancers; melanoma; immunotherapy; oncolytic virotherapy; clinical research

Special Issue Information

Dear Colleagues,

Skin cancers are the most common malignancies in human. Genetic and molecular profiling has contributed to understanding the biology, improving the diagnosis and disease management in oncology and beyond. It refers to analysis of DNA, RNA, proteins and other compartments of the cell using techniques ranging from polymerase chain reaction (PCR) to multi-omics approaches. A PCR test can be run on tumor tissue to test for the BRAF V600 mutation in cutaneous melanoma, which would indicate tumor susceptibility for BRAF inhibitors; however, more advanced techniques are now used in tackling the mechanisms of resistance. Historically, genetic analysis was performed on tumor cells from metastases; however, not only detection of circulating of circulating tumor cells and DNA, but also molecular analysis is now possible. The field of genetic and molecular profiling is growing in many directions, including developing of new technologies, optimizing big-data interpretation, and understanding of clinical relevance and application.

For this Special Issue of Cancers, we welcome authors to submit original research articles or comprehensive reviews focusing on the development, research or clinical application of genetic and molecular approaches in skin cancers. We hope that such a collection of research will expand our knowledge on contemporary genetic and molecular profiling approaches and improve our understanding of their clinical implications.

Dr. Egle Ramelyte
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 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

  • genetic analysis
  • multi-omics approaches
  • skin cancer
  • mutation
  • epigenetic alteration
  • proteomics

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Published Papers (3 papers)

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23 pages, 7972 KiB  
Article
Short Tandem Repeat (STR) Somatic Mutation in Non-Melanoma Skin Cancer (NMSC): Association with Transcriptomic Profile and Potential Implications for Therapy
by Muhammad G. Kibriya, Armando Almazan, Maria Argos, Tariqul Islam, Christopher R. Shea, Habibul Ahsan and Farzana Jasmine
Cancers 2025, 17(10), 1669; https://doi.org/10.3390/cancers17101669 - 15 May 2025
Viewed by 308
Abstract
Background: Studies on somatic mutations in cancer typically report single-nucleotide variants in coding regions, while mutations in short tandem repeats (STRs) are usually overlooked. Homopolymeric regions, a subset of STRs, are stretches of DNA where only a single nucleotide is repeated multiple times [...] Read more.
Background: Studies on somatic mutations in cancer typically report single-nucleotide variants in coding regions, while mutations in short tandem repeats (STRs) are usually overlooked. Homopolymeric regions, a subset of STRs, are stretches of DNA where only a single nucleotide is repeated multiple times (e.g., AAAAA or TTTTT). Only recently have mutations in such STR regions been seen in colorectal cancer, where microsatellite instability (MSI) is common. In non-melanoma skin cancer (NMSC), MSI is rare. In this study, we focus on somatic mutations in such homopolymeric regions in NMSC and their functional implications. Methods: We performed targeted DNA sequencing (paired tissue and blood from the same individual), using more than 400 cancer-related genes from 32 NMSC patients as cases and non-lesional skin tissue from 16 independent individuals as controls. Results: We identified NMSC-associated STR somatic mutations. These are associated with the dysregulation of DNA damage and repair mechanisms. In artificial intelligence (AI) predictive modeling, these markers could successfully differentiate basal cell carcinoma (BCC) and non-lesional skin tissue. To our knowledge, we present the first study focusing on STR somatic mutations in multiple cancer-related genes in NMSC found only in tumor tissue and not in non-lesional skin tissue. Some of them (APC, BRAF) are associated with more pronounced dysregulation of relevant gene pathways (hedgehog, Notch signaling, and Wnt signaling). Conclusions: Our findings suggest that this STR somatic mutation status might potentially be used to select BCC patients who could benefit from certain precision therapy including hedgehog inhibitors, gamma-secretase inhibitors, anti-Vasuclar endothelial growth factor (VEGF), proteasome inhibitors, and immune check-point inhibitors. Full article
(This article belongs to the Special Issue Advances in Genetic and Molecular Approaches to Skin Cancer)
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12 pages, 1348 KiB  
Article
Mutational Profiles of Cutaneous Squamous Cell Carcinomas with Different Patterns of Clinical Aggression from Head and Neck Regions
by Maria Colombino, Giuseppe Palmieri, Manuela Rodio, Matilde Tettamanzi, Silvia Rampazzo, Raffaello Margani, Emilio Trignano, Antonio Cossu, Maria Antonietta Fedeli, Giovanni Maria Fadda and Corrado Rubino
Cancers 2024, 16(11), 1956; https://doi.org/10.3390/cancers16111956 - 22 May 2024
Cited by 1 | Viewed by 1948
Abstract
Cutaneous squamous cell carcinoma is a prevalent malignancy with a rising incidence and a notably high mutational load. Exploring the genetic nuances of cSCC and investigating molecular approaches stands as a potential avenue for improving outcomes in high-risk patients. This retrospective case-control study [...] Read more.
Cutaneous squamous cell carcinoma is a prevalent malignancy with a rising incidence and a notably high mutational load. Exploring the genetic nuances of cSCC and investigating molecular approaches stands as a potential avenue for improving outcomes in high-risk patients. This retrospective case-control study involved two cohorts, one of 14 patients (the “discovery cohort”) and the other of 12 patients (the “validation cohort”), with cSCC located in the head/neck anatomical region and diagnosed at the pT2 stage. Overall, cases developed early local relapses of the disease, whereas controls never relapsed during the entire follow-up period. A next-generation sequencing (NGS) approach conducted on histological samples revealed that TP53 and CDKN2A were the most frequently mutated genes in our series. No specific mutations were identified as potential prognostic or therapeutic targets. Controls exhibited a tendency toward a higher mutational rate compared to cases. It is possible that an increased number of mutations could prompt the cSCC to expose more antigens, becoming more immunogenic and facilitating recognition by the immune system. This could enhance and sustain the immunological response, potentially preventing future recurrences. Full article
(This article belongs to the Special Issue Advances in Genetic and Molecular Approaches to Skin Cancer)
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12 pages, 1073 KiB  
Systematic Review
Harnessing ctDNA in Advanced Melanoma: A Promising Tool for Informed Clinical Decisions
by Rugile Pikturniene, Alvydas Cesas, Sonata Jarmalaite, Arturas Razbadauskas and Vincas Urbonas
Cancers 2024, 16(6), 1197; https://doi.org/10.3390/cancers16061197 - 18 Mar 2024
Cited by 5 | Viewed by 2884
Abstract
Cutaneous melanoma, an aggressive malignancy, has undergone significant transformation in clinical management with the introduction of immune checkpoint inhibitors (ICIs) and targeted therapies. Current monitoring methods, such as imaging scans, present limitations, prompting exploration of alternative biomarkers. This review comprehensively explores the role [...] Read more.
Cutaneous melanoma, an aggressive malignancy, has undergone significant transformation in clinical management with the introduction of immune checkpoint inhibitors (ICIs) and targeted therapies. Current monitoring methods, such as imaging scans, present limitations, prompting exploration of alternative biomarkers. This review comprehensively explores the role of circulating tumor DNA (ctDNA) in advanced melanoma, covering technical aspects, detection methods, and its prognostic and predictive value. Recent findings underscore ctDNA’s potential applications and implications in clinical practice. This review emphasizes the need for precise and dynamic biomarkers in melanoma care, positioning ctDNA as a promising blood-based tool for prognosis, treatment response, and resistance mechanisms. The technical nuances of ctDNA detection, association with melanoma mutations, and its role in guiding therapeutic decisions for immunotherapy and targeted therapy underscore its multifaceted utility, marking a paradigm shift in clinical decision-making and offering a promising trajectory for personalized and informed care in advanced melanoma. Full article
(This article belongs to the Special Issue Advances in Genetic and Molecular Approaches to Skin Cancer)
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