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Advances in Melanoma: From Basic Research to Clinical Management, and...
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Advances in Melanoma: From Basic Research to Clinical Management, and Future Horizons Exploitation

A Special Issue of Diseases (ISSN 2079-9721) belonging to the section "Oncology".

Deadline for manuscript submissions: 31 December 2026 | Viewed by 4931

Editor

Prof. Dr. Laura Atzori

E-Mail Website
Guest Editor
Chief of Dermatology Clinic, Department Medical Sciences and Public Health, University of Cagliari, Cagliari, Italy
Interests: melanoma

Special Issue Information

Dear Colleagues,

We are pleased to invite you to contribute and share your insights on melanoma research, to uncover more subtle disease mechanisms, to further improve diagnosis and management, including future perspectives, and to understand what is actually needed to increase survival. Despite the unquestionable advancements in early diagnosis and treatment, mortality remains high, epidemiological information is not reassuring regarding younger age at diagnosis, and incidence curve is increasing. Critical evaluations of what contributions technologies and artificial intelligence (AI) have provided in the field of not-invasive diagnostic and prognostic predictors is a matter of debate, as well as the benefits of newly designed targets for advanced melanoma treatment. However, as we always usher towards new and exciting discoveries, we need to ensure the best practices regarding the treatment of patients, from the surgery to medical management and follow-up, whose guidelines are not always easily accomplished in the clinic.

This Special Issue aims to point out the pros and cons in our current knowledge of melanoma: where we are now and what we still need to reach and improve, from basic research to clinical management. There is great potential to transform how we diagnose and treat patients, especially those in an intermediate stage that are at a higher risk of developing metastasis, which we are currently not able to detect. Placing greater importance on the role of technologies in the search of biomarkers, prognosis assessment, and treatment selection, as well as helping to address research voids, might uncover unmet needs that could be exploited to eventually overcome melanoma in the near future.

In this Special Issue, original research articles and reviews are welcome, as well as short notes on future perspectives and fields of research that have not yet been covered. Research areas may include (but are not limited to) the following: advancements in genetics, disease mechanisms, epidemiology, surgical and medical management, diagnostic and prognostic assessments, and patient support in daily practice.

We look forward to receiving your contributions.

Prof. Dr. Laura Atzori
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 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-anonymized peer-review process. A guide for authors and other relevant information for submission of manuscripts is available on the Instructions for Authors page. Diseases 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 1800 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

  • melanoma
  • epidemiology
  • gene expression profile
  • prognosis
  • target therapy
  • diagnosis
  • artificial intelligence

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Published Papers (3 papers)

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Research

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13 pages, 253 KB  
Article
Association Between BRAF Mutation Status and Clinicopathological Features in Melanoma Patients in Kosova
by Merita Hashani and Arjeta Podrimaj-Bytyqi
Diseases 2026, 14(8), 278; https://doi.org/10.3390/diseases14080278 - 4 Aug 2026
Viewed by 361
Abstract
Background/Objective: Melanoma is an aggressive skin malignancy characterized by significant molecular heterogeneity. Among the molecular alterations identified in melanoma, BRAF mutations represent one of the most common genetic abnormalities and play an important role in activating the MAPK signaling pathway. BRAF mutation status [...] Read more.
Background/Objective: Melanoma is an aggressive skin malignancy characterized by significant molecular heterogeneity. Among the molecular alterations identified in melanoma, BRAF mutations represent one of the most common genetic abnormalities and play an important role in activating the MAPK signaling pathway. BRAF mutation status has become clinically important because of its prognostic significance and implications for targeted therapy. This study aimed to evaluate the frequency of BRAF mutations and their associations with demographic, histopathological, and clinicopathological characteristics in melanoma patients at the only referral center for BRAF testing in Kosova, the Institute of Pathology, University Clinical Center of Kosova (UCCK). Methods: This retrospective study included 127 melanoma patients. Descriptive statistics, frequency analysis, Spearman’s correlation and multivariable binary logistic regression analyses were performed to evaluate associations between BRAF mutation status and clinicopathological variables, including age, gender, Breslow thickness, histological type, ulceration, and anatomical localization. Results: BRAF mutation was identified in 76 of 127 melanoma patients (59.8%). The BRAF V600E/V600E2/V600D variants represented the predominant molecular subtype (75%). BRAF-positive melanoma was more frequently observed in younger patients and was significantly associated with increased Breslow thickness, nodular melanoma, ulceration, and trunk localization. Conclusions: BRAF mutations were highly prevalent in melanoma patients from Kosova and were associated with clinicopathological features of a more aggressive disease. The findings establish an important baseline for molecular epidemiology in the country and support the integration of routine BRAF testing into personalized melanoma management and future regional research. Full article
(This article belongs to the Special Issue Advances in Melanoma: From Basic Research to Clinical Management, and Future Horizons Exploitation)

Review

Jump to: Research

22 pages, 2043 KB  
Review
Antihypertensive Drugs as Potential Repositioning Options for Melanoma: A Map of Pre-Clinical Evidence
by Naomi Gerzvolf Mieres, Kauanna Oliveira, Nathália Carolina Barreiro Marques, Nicole Milagritos Cardoso Azorza, Helena Hiemisch Lobo Borba, Roberto Pontarolo, Marcel Henrique Marcondes Sari, Juliana Sartori Bonini, Jéssica Brandão Reolon, Raul Edison Luna Lazo and Luana Mota Ferreira
Diseases 2026, 14(8), 291; https://doi.org/10.3390/diseases14080291 - 12 Aug 2026
Viewed by 436
Abstract
Background/Objectives: Melanoma remains one of the most aggressive skin cancers worldwide, with rising incidence and persistent therapeutic challenges, particularly in advanced diseases. Drug repositioning has emerged as a cost- and time-efficient strategy for identifying adjunctive treatments, and antihypertensive medications have attracted attention [...] Read more.
Background/Objectives: Melanoma remains one of the most aggressive skin cancers worldwide, with rising incidence and persistent therapeutic challenges, particularly in advanced diseases. Drug repositioning has emerged as a cost- and time-efficient strategy for identifying adjunctive treatments, and antihypertensive medications have attracted attention for their potential off-target antitumor and immunomodulatory effects. This scoping review aimed to map and critically appraise the evidence on the repositioning of antihypertensive drugs for melanoma management. Methods: The review followed the JBI methodology, and the results were reported in accordance with the PRISMA-ScR guidelines. Searches were conducted in July 2025 and updated in May 2026 in PubMed, Scopus, and Web of Science. For Methodological Quality and Risk-of-bias assessment, the SYRCLE Risk of Bias tool was employed for animal studies. Results: This review included 37 studies. β-Blockers, particularly propranolol, were the most frequently investigated agents (n = 21). Several studies reported antiproliferative, pro-apoptotic, antiangiogenic, and immunomodulatory effects; however, these findings were not uniform. Absent direct antiproliferative effects, biphasic dose responses, lack of angiogenic effects, and outcomes dependent on drug concentration, treatment schedule, and experimental model were also reported. Agents targeting the renin–angiotensin system and calcium channels similarly produced heterogeneous and context-dependent findings. The animal studies frequently presented high or unclear risk of bias, particularly because of incomplete reporting of randomization, allocation concealment, and blinding. No formal methodological quality assessment was performed for the in vitro studies. Conclusions: Antihypertensive agents, particularly β-blockers, show promising but heterogeneous preclinical signals in melanoma. However, the available evidence is not sufficient to establish reproducible efficacy or translational validity. Standardized and methodologically rigorous preclinical studies are required before these agents can be considered for clinical investigation as adjunctive melanoma therapies. Full article
(This article belongs to the Special Issue Advances in Melanoma: From Basic Research to Clinical Management, and Future Horizons Exploitation)
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23 pages, 2935 KB  
Review
Germline Non-CDKN2A Variants in Melanoma and Associated Hereditary Cancer Syndromes
by Chiara Anna Fiasconaro, Alice Carbone, Silvia Giordano, Francesco Cavallo, Paolo Fava, Barbara Pasini, Yuliya Yakymiv, Sara Marchisio, Pietro Quaglino, Simone Ribero and Gabriele Roccuzzo
Diseases 2025, 13(6), 180; https://doi.org/10.3390/diseases13060180 - 9 Jun 2025
Cited by 7 | Viewed by 2864
Abstract
The etiology of melanoma is multifactorial and arises from the interplay of genetic, phenotypic, and environmental factors. The genetic predisposition to melanoma is influenced by a complex interaction among genes exhibiting varying levels of penetrance (high, moderate, and low), each contributing differently to [...] Read more.
The etiology of melanoma is multifactorial and arises from the interplay of genetic, phenotypic, and environmental factors. The genetic predisposition to melanoma is influenced by a complex interaction among genes exhibiting varying levels of penetrance (high, moderate, and low), each contributing differently to the susceptibility of the disease. Furthermore, penetrance may vary based on the incidence of melanoma across diverse populations and geographical regions. Advances in genetic sequencing technologies have facilitated the identification of novel genes potentially associated with melanoma, as well as the characterization of relevant germline variants. While the most extensively researched variant is CDKN2A, recent studies have highlighted other variants unrelated to CDKN2A as significant areas of investigation. Among them, high-penetrance genes encompass CDK4, BAP1, POT1, TERT, ACD, and TERF2IP. In contrast, moderate-penetrance genes include MC1R, MITF, and SLC45A2, while low-penetrance genes consist of OCA2, TYRP1, and TYR. In addition to elevating the risk of melanoma, these genetic alterations may also predispose individuals to internal neoplasms. This review aims to provide a comprehensive overview of the definitions of sporadic, multiple primary, familial, and hereditary melanoma, with a particular emphasis on non-CDKN2A germline variants and their dermoscopic and phenotypic features. Full article
(This article belongs to the Special Issue Advances in Melanoma: From Basic Research to Clinical Management, and Future Horizons Exploitation)
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