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

A special issue of Diseases (ISSN 2079-9721). This special issue belongs to the section "Oncology".

Deadline for manuscript submissions: 31 October 2025 | Viewed by 503

Special Issue Editor


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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

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Keywords

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

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Published Papers (1 paper)

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Review

23 pages, 2935 KiB  
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
Viewed by 198
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
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