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    Distribution and clinical role of KIT gene mutations in melanoma according to subtype: a study of 492 Spanish patients

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    Authors
    Millán-Esteban, D.
    García-Casado, Z.
    Manrique-Silva, E.
    Virós, Amaya
    Kumar, R.
    Furney, S.
    López-Guerrero, J. A.
    Requena, C.
    Bañuls, J.
    Traves, V.
    Nagore, E.
    Show allShow less
    Affiliation
    Laboratory of Molecular Biology, Fundación Instituto Valenciano de Oncología, València, Spain.
    Issue Date
    2021
    
    Metadata
    Show full item record
    Abstract
    Background: KIT mutations are primarily associated with acral and mucosal melanoma, and have been reported to show higher prevalence in chronic sun-damaged (CSD) than non-CSD melanomas. Objectives: To investigate the prevalence of KIT mutations in melanoma according to subtype, and determine the clinical role of such mutations. Material & methods: We present results from a study of a Spanish population of 492 melanomas, classified according to the latest World Health Organization (WHO) guidelines. We analysed the mutational status of KIT and correlated with different clinical variables related to sun exposure and family history. Results: KIT mutations were significantly more frequent in acral (3/36; 8.3%) and mucosal (4/8; 50%) melanomas than non-acral cutaneous melanomas. No significant difference was observed in KIT mutational status between CSD and non-CSD melanomas. Conclusion: Our results suggest that KIT mutations in melanoma tumours are unrelated to the development of nevi or chronic sun damage, but their presence is associated with aggressive melanomas which show ulceration, vascular invasiveness, and increased Breslow thickness. These findings are consistent with those reported by The Cancer Genome Atlas network.
    Citation
    Millan-Esteban D, Garcia-Casado Z, Manrique-Silva E, Viros A, Kumar R, Furney S, et al. Distribution and clinical role of KIT gene mutations in melanoma according to subtype: a study of 492 Spanish patients. Eur J Dermatol. 2021.
    Journal
    European Journal of Dermatology
    URI
    http://hdl.handle.net/10541/623886
    DOI
    10.1684/ejd.2021.3971
    PubMed ID
    33648909
    Additional Links
    https://dx.doi.org/10.1684/ejd.2021.3971
    Type
    Article
    Language
    en
    ae974a485f413a2113503eed53cd6c53
    10.1684/ejd.2021.3971
    Scopus Count
    Collections
    All Paterson Institute for Cancer Research

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