UV-Induced Somatic Mutations Driving Clonal Evolution in Healthy Skin, Nevus, and Cutaneous Melanoma
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Other documents of the author: Loras Monfort, Alba; Gil-Barrachina, Marta; Marques-Torrejon, Maria Angeles; Pérez-Pastor, Gemma María; Martinez-Cadenas, Conrado
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Title
UV-Induced Somatic Mutations Driving Clonal Evolution in Healthy Skin, Nevus, and Cutaneous MelanomaAuthor (s)
Date
2022-08-29Publisher
MDPIISSN
2075-1729Bibliographic citation
Loras, A.; Gil-Barrachina, M.; Marqués-Torrejón, M.Á.; Perez-Pastor, G.; Martinez-Cadenas, C. UV-Induced Somatic Mutations Driving Clonal Evolution in Healthy Skin, Nevus, and Cutaneous Melanoma. Life 2022, 12, 1339. https://doi.org/10.3390/ life12091339Type
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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 ... [+]
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 targetedtherapy 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. [-]
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Life, Vol.12, Iss. 9 (September 2022)Rights
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