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Life
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Melanoma Next Generation
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Melanoma Next Generation

A special issue of Life (ISSN 2075-1729). This special issue belongs to the section "Medical Research".

Deadline for manuscript submissions: closed (31 October 2022) | Viewed by 11244

Special Issue Editors

Dr. Santos Alonso

E-Mail Website
Guest Editor
Department of Genetics, Physical Anthropology and Animal Physiology, Faculty of Science and Technology, UPV/EHU, 48940 Leioa, Spain
Interests: melanoma; human melanocytes; human skin pigmentation
Prof. Dr. María Dolores Boyano López

E-Mail Website
Guest Editor
1. Group of Cancer & Translational Medicine, Department of Cell Biology and Histology, Faculty of Medicine and Nursing, University of the Basque Country (UPV/EHU), 48940 Leioa, Biskaia, Spain
2. BioCruces Bizkaia Health Research Institute, 48903 Barakaldo, Bizkaia, Spain
Interests: melanoma; biomarker; cancer biology

Special Issue Information

Dear Colleagues,

Melanoma is a type, the deadliest type, of skin cancer, that derives from the uncontrolled growth of melanocytes.  The most important risk factor or melanoma is exposure to the suns' UV light, which indicates that deaths by melanoma can be prevented. However, according to the 2020 Melanoma Skin Cancer the annual cases of melanoma, and deaths, are increasing (https://melanomapatients.org.au/wp-content/uploads/2020/04/2020-campaign-report-GC-version-MPA_1.pdf). WHO predicts that by 2025 deaths  caused by melanoma will keep increasing worldwide, at a rate depending on the population (https://gco.iarc.fr/tomorrow/en). Not only melanoma incidence represents an avoidable loss of lifes, it also entails a burden for the healthcare services. In the USA, it has been estimated that the annual cost of treating new patients with melanoma is expected to reach $1.6 billion* by 2030 (https://www.cdc.gov/chronicdisease/programs-impact/pop/skin-cancer.htm)

(see also Guy GP et al. (2015) Vital Signs: melanoma incidence and mortality trends and projections — United States, 1982–2030. MMWR Morb Mortal Wkly Rep. 64:591–596.).

With this special issue we aim at updating the scientific community of the recent epidemiological data and recent developments in detection and treatment of melanoma. We also hope that by doing so, it will help not only raise public awareness and support but also promote a behavioral change.

Consequently, we invite investigators to contribute original research as well as review articles that will contribute to this goal. In particular, but not exclusively, we welcome manuscripts on the following topics:

  • Melanoma epidemiology; risk by population, habits and other factors.
  • Melanoma genetic risk factors: the effect of genetic polymorphisms on melanoma risk; polygenic risk scores.
  • Melanoma diagnosis and prognosis: new tools including 'omics' technologies such as genomics, transcriptomics, spatial transcriptomics, single-cell transcriptomics, lipidomics…),  and advanced statistical techniques (like machine or deep-learning)
  • Melanoma treatments: including immune therapy and others
  • Melanoma as an evolutionary process (including evolution of tumour cells)
  • Melanocyte development and melanoma

Dr. Santos Alonso
Prof. Dr. María Dolores Boyano López
Guest Editors

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. Life 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

  • melanoma epidemiology
  • melanoma genetic risk factors
  • melanoma diagnosis and prognosis
  • melanocyte development

Published Papers (3 papers)

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Research

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26 pages, 17489 KiB  
Article
Melanoma and Nevi Subtype Histopathological Characterization with Optical Coherence Tomography
by Cristina L. Saratxaga, Aintzane Asumendi, Jesús Gardeazabal, Rosa M. Izu, Ana Sanchez, Goikoana Cancho-Galan, Celia Morales, Sergio Lage, Maria D. Boyano, Olga M. Conde and Estibaliz Garrote
Life 2023, 13(3), 625; https://doi.org/10.3390/life13030625 - 23 Feb 2023
Viewed by 1574
Abstract
Background: Melanoma incidence has continued to rise in the latest decades, and the forecast is not optimistic. Non-invasive diagnostic imaging techniques such as optical coherence tomography (OCT) are largely studied; however, there is still no agreement on its use for the diagnosis of [...] Read more.
Background: Melanoma incidence has continued to rise in the latest decades, and the forecast is not optimistic. Non-invasive diagnostic imaging techniques such as optical coherence tomography (OCT) are largely studied; however, there is still no agreement on its use for the diagnosis of melanoma. For dermatologists, the differentiation of non-invasive (junctional nevus, compound nevus, intradermal nevus, and melanoma in-situ) versus invasive (superficial spreading melanoma and nodular melanoma) lesions is the key issue in their daily routine. Methods: This work performs a comparative analysis of OCT images using haematoxylin–eosin (HE) and anatomopathological features identified by a pathologist. Then, optical and textural properties are extracted from OCT images with the aim to identify subtle features that could potentially maximize the usefulness of the imaging technique in the identification of the lesion’s potential invasiveness. Results: Preliminary features reveal differences discriminating melanoma in-situ from superficial spreading melanoma and also between melanoma and nevus subtypes that pose a promising baseline for further research. Conclusions: Answering the final goal of diagnosing non-invasive versus invasive lesions with OCT does not seem feasible in the short term, but the obtained results demonstrate a step forward to achieve this. Full article
(This article belongs to the Special Issue Melanoma Next Generation)
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Review

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33 pages, 1822 KiB  
Review
From Samples to Germline and Somatic Sequence Variation: A Focus on Next-Generation Sequencing in Melanoma Research
by Adrián Muñoz-Barrera, Luis A. Rubio-Rodríguez, Ana Díaz-de Usera, David Jáspez, José M. Lorenzo-Salazar, Rafaela González-Montelongo, Víctor García-Olivares and Carlos Flores
Life 2022, 12(11), 1939; https://doi.org/10.3390/life12111939 - 21 Nov 2022
Cited by 1 | Viewed by 4762
Abstract
Next-generation sequencing (NGS) applications have flourished in the last decade, permitting the identification of cancer driver genes and profoundly expanding the possibilities of genomic studies of cancer, including melanoma. Here we aimed to present a technical review across many of the methodological approaches [...] Read more.
Next-generation sequencing (NGS) applications have flourished in the last decade, permitting the identification of cancer driver genes and profoundly expanding the possibilities of genomic studies of cancer, including melanoma. Here we aimed to present a technical review across many of the methodological approaches brought by the use of NGS applications with a focus on assessing germline and somatic sequence variation. We provide cautionary notes and discuss key technical details involved in library preparation, the most common problems with the samples, and guidance to circumvent them. We also provide an overview of the sequence-based methods for cancer genomics, exposing the pros and cons of targeted sequencing vs. exome or whole-genome sequencing (WGS), the fundamentals of the most common commercial platforms, and a comparison of throughputs and key applications. Details of the steps and the main software involved in the bioinformatics processing of the sequencing results, from preprocessing to variant prioritization and filtering, are also provided in the context of the full spectrum of genetic variation (SNVs, indels, CNVs, structural variation, and gene fusions). Finally, we put the emphasis on selected bioinformatic pipelines behind (a) short-read WGS identification of small germline and somatic variants, (b) detection of gene fusions from transcriptomes, and (c) de novo assembly of genomes from long-read WGS data. Overall, we provide comprehensive guidance across the main methodological procedures involved in obtaining sequencing results for the most common short- and long-read NGS platforms, highlighting key applications in melanoma research. Full article
(This article belongs to the Special Issue Melanoma Next Generation)
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17 pages, 847 KiB  
Review
UV-Induced Somatic Mutations Driving Clonal Evolution in Healthy Skin, Nevus, and Cutaneous Melanoma
by Alba Loras, Marta Gil-Barrachina, María Ángeles Marqués-Torrejón, Gemma Perez-Pastor and Conrado Martinez-Cadenas
Life 2022, 12(9), 1339; https://doi.org/10.3390/life12091339 - 29 Aug 2022
Cited by 6 | Viewed by 3530
Abstract
Introduction: Due to its aggressiveness, cutaneous melanoma (CM) is responsible for most skin cancer-related deaths worldwide. The origin of CM is closely linked to the appearance of UV-induced somatic mutations in melanocytes present in normal skin or in CM precursor lesions (nevi or [...] Read more.
Introduction: Due to its aggressiveness, cutaneous melanoma (CM) is responsible for most skin cancer-related deaths worldwide. The origin of CM is closely linked to the appearance of UV-induced somatic mutations in melanocytes present in normal skin or in CM precursor lesions (nevi or dysplastic nevi). In recent years, new NGS studies performed on CM tissue have increased the understanding of the genetic somatic changes underlying melanomagenesis and CM tumor progression. Methods: We reviewed the literature using all important scientific databases. All articles related to genomic mutations in CM as well as normal skin and nevi were included, in particular those related to somatic mutations produced by UV radiation. Conclusions: CM development and progression are strongly associated with exposure to UV radiation, although each melanoma subtype has different characteristic genetic alterations and evolutionary trajectories. While BRAF and NRAS mutations are common in the early stages of tumor development for most CM subtypes, changes in CDKN2A, TP53 and PTEN, together with TERT promoter mutations, are especially common in advanced stages. Additionally, large genome duplications, loss of heterozygosity, and copy number variations are hallmarks of metastatic disease. Finally, the mutations driving melanoma targeted-therapy drug resistance are also summarized. The complete sequential stages of clonal evolution leading to CM onset from normal skin or nevi are still unknown, so further studies are needed in this field to shed light on the molecular pathways involved in CM malignant transformation and in melanoma acquired drug resistance. Full article
(This article belongs to the Special Issue Melanoma Next Generation)
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