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Skin Cancer: Genetics, Diagnosis and Prevention
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Skin Cancer: Genetics, Diagnosis and Prevention

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

Deadline for manuscript submissions: closed (31 May 2021) | Viewed by 22710

Special Issue Editors

Dr. Ignazio Stanganelli

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Guest Editor
1. Skin Cancer Unit, Scientific Institute of Romagna for the Study of Cancer, IRCSS IRST, 47014 Meldola, Italy
2. Department of Dermatology, University of Parma, 43121 Parma, Italy
Interests: primary prevention skin cancer; secondary prevention skin cancer; multidisciplinary management skin cancer
Prof. Dr. Giuseppe Palmieri

E-Mail Website
Guest Editor
National Research Council (CNR), Institute of Genetic and Biomedical Research (IRGB), 07100 Sassari, Italy
Interests: cancer genetics; molecular diagnosis; biomarkers; precision medicine; melanoma and non-melanoma pathogenesis
Dr. Saverio Caini

E-Mail Website
Guest Editor
Institute for Cancer Research, Prevention and Clinical Network (ISPRO), Via Cosimo il Vecchio 2, 50139 Florence, Italy
Interests: melanoma; skin cancer; epidemiology; genetics; risk factors; prevention
Special Issues, Collections and Topics in MDPI journals

Special Issue Information

Dear Colleagues,

Research in recent decades has implicated several genes and genetic events in the development and progression of melanoma and non-melanoma skin cancer with specific clinical–pathological patterns. Dermoscopy and reflectance confocal microscopy are interactive in vivo methods which offer morphological characterization and enable the identification of melanocytic and keratinocyte proliferations, with a great impact on clinical practice and applied genetic research. Inherited genetic defects have been discovered, allowing the identification of individuals with increased susceptibility to the disease. Unveiling the landscape of somatic mutations in melanoma and precursor lesions, some of which are indisputably attributable to environmental exposures, has made it possible to gain a deeper understanding of melanomagenesis and represents a crucial step toward the development of targeted therapy. Despite these advances, melanoma still stands out as a high-incidence malignancy with a poor prognosis when the diagnosis comes at an advanced stage. Efforts are required for accurate classification of the different molecular subtypes underlying biological and clinical heterogeneity, eventually leading to optimizing the management of skin cancer patients. This Special Issue in Genes on “Skin Cancer: Genetics, Diagnosis, and Prevention” will host scientific articles at the forefront of research in the field of genetics applied to melanoma and non-melanoma skin cancer prevention, diagnosis, therapy, and patient management. 

Prof. Dr. Ignazio Stanganelli
Prof. Dr. Giuseppe Palmieri
Dr. Saverio Caini
Guest Editors

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Keywords

  • Melanoma
  • Non-melanoma skin cancer
  • Genetic association
  • Prevention

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Published Papers (5 papers)

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Research

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15 pages, 3534 KiB  
Article
Clinicopathological and Genomic Profiles of Atypical Fibroxanthoma and Pleomorphic Dermal Sarcoma Identify Overlapping Signatures with a High Mutational Burden
by Melike Ak, Abdullah Kahraman, Fabian M. Arnold, Patrick Turko, Mitchell P. Levesque, Martin Zoche, Egle Ramelyte and Reinhard Dummer
Genes 2021, 12(7), 974; https://doi.org/10.3390/genes12070974 - 25 Jun 2021
Cited by 15 | Viewed by 2747
Abstract
Atypical fibroxanthoma (AFX) and pleomorphic dermal sarcoma (PDS) are rare tumors developing in chronically sun-exposed skin. Clinicopathological features are similar, but they differ in prognosis, while PDS has a more aggressive course with a higher risk for local recurrence and metastases. In current [...] Read more.
Atypical fibroxanthoma (AFX) and pleomorphic dermal sarcoma (PDS) are rare tumors developing in chronically sun-exposed skin. Clinicopathological features are similar, but they differ in prognosis, while PDS has a more aggressive course with a higher risk for local recurrence and metastases. In current clinical practice, they are diagnosed by exclusion using immunohistochemistry. Thus, stringent diagnostic criteria and correct differentiation are critical in management and treatment for optimal outcomes. This retrospective single-center study collected clinicopathological data and tumor samples of 10 AFX and 18 PDS. Extracted genomic DNA from tumor specimens was analyzed by a next-generation sequencing (NGS) platform (FoundationOne-CDx™). Among 65 identified mutations, TP53 inactivating mutations were observed in all tumor specimens. In both AFX and PDS, the known pathogenic gene alterations in CDKN2A, TERT promoter, and NOTCH1 were frequently present, along with high mutational burden and stable Micro-Satellite Instability status. The mutational profiles differed only in ASXL1, which was only present in AFX. Further differences were identified in likely pathogenic and unknown gene alterations. Similarities in their genomic signatures could help to distinguish them from other malignancies, but they are not distinguishable between each other using the FoundationOne-CDx™ NGS panel. Therefore, histological criteria to determine diagnosis remain valid. For further insight, performing deep tumor profiling may be necessary. Full article
(This article belongs to the Special Issue Skin Cancer: Genetics, Diagnosis and Prevention)
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12 pages, 9383 KiB  
Article
Clinical and Molecular Features of Skin Malignancies in Muir-Torre Syndrome
by Dario Simic, Reinhard Dummer, Sandra N. Freiberger, Egle Ramelyte and Marjam-Jeanette Barysch
Genes 2021, 12(5), 781; https://doi.org/10.3390/genes12050781 - 20 May 2021
Cited by 7 | Viewed by 3634
Abstract
Background: We investigated the mutational landscape of skin tumors in patients with Muir-Torre Syndrome (MTS) a hereditary autosomal dominant mismatch repair disorder of increased cancer susceptibility, and examined mutations other than in the DNA mismatch repair (MMR) genes. Methods: This retrospective single-center case [...] Read more.
Background: We investigated the mutational landscape of skin tumors in patients with Muir-Torre Syndrome (MTS) a hereditary autosomal dominant mismatch repair disorder of increased cancer susceptibility, and examined mutations other than in the DNA mismatch repair (MMR) genes. Methods: This retrospective single-center case series included seven patients with the diagnosis of Muir-Torre Syndrome with precise medical history and family history. Mutational analysis of tumor samples Formalin-fixed paraffin-embedded tissue blocks of skin lesions associated with Muir-Torre Syndrome were used for further analysis. All skin tumors were analyzed with the Oncomine Comprehensive Assay v3 (Life Technologies), which includes 161 of the most relevant cancer driver genes. Results: Eleven skin neoplasms (nine sebaceous tumors, one melanoma, one cutaneous squamous cell carcinoma) were diagnosed in seven patients. In two patients, visceral malignancies preceded the diagnosis of the skin tumors and one patient was diagnosed with a visceral malignancy after a sebaceous tumor. History of familial cancer of Lynch Syndrome (LS) was reported in three patients. The most frequently detected mutation was in the MSH2 gene, followed by mutations in the NOTCH1/2 and TP53 gene. Conclusion, this study provides a molecular analysis of Muir-Torre Syndrome associated and non-associated skin tumors in patients with Muir-Torre Syndrome. Patients with sebaceous lesions should undergo microsatellite instability analysis and accurate evaluation of personal and family history to detect a possible Muir-Torre syndrome. As secondary malignancies may appear years after the first occurrence of sebaceous tumors, lifelong screening is mandatory. Full article
(This article belongs to the Special Issue Skin Cancer: Genetics, Diagnosis and Prevention)
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Review

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24 pages, 59957 KiB  
Review
Dermoscopic Criteria, Histopathological Correlates and Genetic Findings of Thin Melanoma on Non-Volar Skin
by Cesare Massone, Rainer Hofman-Wellenhof, Stefano Chiodi and Simona Sola
Genes 2021, 12(8), 1288; https://doi.org/10.3390/genes12081288 - 23 Aug 2021
Cited by 7 | Viewed by 4020
Abstract
Dermoscopy is a non-invasive, in vivo technique that allows the visualization of subsurface skin structures in the epidermis, at the dermoepidermal junction, and in the upper dermis. Dermoscopy brought a new dimension in evaluating melanocytic skin neoplasms (MSN) also representing a link between [...] Read more.
Dermoscopy is a non-invasive, in vivo technique that allows the visualization of subsurface skin structures in the epidermis, at the dermoepidermal junction, and in the upper dermis. Dermoscopy brought a new dimension in evaluating melanocytic skin neoplasms (MSN) also representing a link between clinical and pathologic examination of any MSN. However, histopathology remains the gold standard in diagnosing MSN. Dermoscopic–pathologic correlation enhances the level of quality of MSN diagnosis and increases the level of confidence of pathologists. Melanoma is one of the most genetically predisposed among all cancers in humans. The genetic landscape of melanoma has been described in the last years but is still a field in continuous evolution. Melanoma genetic markers play a role not only in melanoma susceptibility, initiation, and progression but also in prognosis and therapeutic decisions. Several studies described the dermoscopic specific criteria and predictors for melanoma and their histopathologic correlates, but only a few studies investigated the correlation among dermoscopy, pathology, and genetic of MSN. The aim of this work is to review the published data about dermoscopic features of melanoma, their histopathological correlates with regards also to genetic alterations. Particularly, this review will focus on low-CSD (cumulative sun damage) melanoma or superficial spreading melanoma, high-CSD melanoma, and nevus-associated melanoma. Full article
(This article belongs to the Special Issue Skin Cancer: Genetics, Diagnosis and Prevention)
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19 pages, 1435 KiB  
Review
Behind the Scene: Exploiting MC1R in Skin Cancer Risk and Prevention
by Michele Manganelli, Stefania Guida, Anna Ferretta, Giovanni Pellacani, Letizia Porcelli, Amalia Azzariti and Gabriella Guida
Genes 2021, 12(7), 1093; https://doi.org/10.3390/genes12071093 - 19 Jul 2021
Cited by 17 | Viewed by 8401
Abstract
Melanoma and non-melanoma skin cancers (NMSCs) are the most frequent cancers of the skin in white populations. An increased risk in the development of skin cancers has been associated with the combination of several environmental factors (i.e., ultraviolet exposure) and genetic background, including [...] Read more.
Melanoma and non-melanoma skin cancers (NMSCs) are the most frequent cancers of the skin in white populations. An increased risk in the development of skin cancers has been associated with the combination of several environmental factors (i.e., ultraviolet exposure) and genetic background, including melanocortin-1 receptor (MC1R) status. In the last few years, advances in the diagnosis of skin cancers provided a great impact on clinical practice. Despite these advances, NMSCs are still the most common malignancy in humans and melanoma still shows a rising incidence and a poor prognosis when diagnosed at an advanced stage. Efforts are required to underlie the genetic and clinical heterogeneity of melanoma and NMSCs, leading to an optimization of the management of affected patients. The clinical implications of the impact of germline MC1R variants in melanoma and NMSCs’ risk, together with the additional risk conferred by somatic mutations in other peculiar genes, as well as the role of MC1R screening in skin cancers’ prevention will be addressed in the current review. Full article
(This article belongs to the Special Issue Skin Cancer: Genetics, Diagnosis and Prevention)
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11 pages, 259 KiB  
Review
The Interplay between Nevi and Melanoma Predisposition Unravels Nevi-Related and Nevi-Resistant Familial Melanoma
by Stefania Pellegrini, Lisa Elefanti, Luigi Dall’Olmo and Chiara Menin
Genes 2021, 12(7), 1077; https://doi.org/10.3390/genes12071077 - 16 Jul 2021
Cited by 1 | Viewed by 2787
Abstract
Genetic susceptibility to nevi may affect the risk of developing melanoma, since common and atypical nevi are the main host risk factors implicated in the development of cutaneous melanoma. Recent genome-wide studies defined a melanoma polygenic risk score based on variants in genes [...] Read more.
Genetic susceptibility to nevi may affect the risk of developing melanoma, since common and atypical nevi are the main host risk factors implicated in the development of cutaneous melanoma. Recent genome-wide studies defined a melanoma polygenic risk score based on variants in genes involved in different pathways, including nevogenesis. Moreover, a predisposition to nevi is a hereditary trait that may account for melanoma clustering in some families characterized by cases with a high nevi density. On the other hand, familial melanoma aggregation may be due to a Mendelian inheritance of high/moderate-penetrance pathogenic variants affecting melanoma risk, regardless of the nevus count. Based on current knowledge, this review analyzes the complex interplay between nevi and melanoma predisposition in a familial context. We review familial melanoma, starting from Whiteman’s divergent pathway model to overall melanoma development, distinguishing between nevi-related (cases with a high nevus count and a high polygenic risk score) and nevi-resistant (high/moderate-penetrance variant-carrier cases) familial melanoma. This distinction could better direct future research on genetic factors useful to identify high-risk subjects. Full article
(This article belongs to the Special Issue Skin Cancer: Genetics, Diagnosis and Prevention)
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