Genetic alterations in RAS-regulated pathway in acral lentiginous melanoma

Authors

  • Joan A. Puig-Butillé,

    1. Centro Investigación Biomédica en Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain
    2. Biochemical and Molecular Genetics Service, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain
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  • Celia Badenas,

    1. Centro Investigación Biomédica en Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain
    2. Biochemical and Molecular Genetics Service, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain
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  • Zighereda Ogbah,

    1. Department of Dermatology, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain
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  • Cristina Carrera,

    1. Centro Investigación Biomédica en Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain
    2. Department of Dermatology, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain
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  • Paula Aguilera,

    1. Centro Investigación Biomédica en Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain
    2. Department of Dermatology, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain
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  • Josep Malvehy,

    1. Centro Investigación Biomédica en Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain
    2. Department of Dermatology, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain
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  • Susana Puig

    Corresponding author
    1. Department of Dermatology, Melanoma Unit, Hospital Clinic & IDIBAPS (Institut d'Investigacions Biomèdiques August Pi i Sunyer), Barcelona, Spain
    • Centro Investigación Biomédica en Enfermedades Raras (CIBERER), ISCIII, Barcelona, Spain
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Correspondence: Susana Puig, MD, Consultant, Melanoma Unit, Dermatology Department, Hospital Clinic Barcelona, Villarroel 170. 08036 Barcelona, Spain, Tel.: +34-93-2275400 ext. 2893, Fax: +34-93-2275438, e-mails: susipuig@gmail.com; spuig@clinic.ub.es

Abstract

Studies integrating clinicopathological and genetic features have revealed distinct patterns of genomic aberrations in Melanoma. Distributions of BRAF or NRAS mutations and gains of several oncogenes differ among melanoma subgroups, while 9p21 deletions are found in all melanoma subtypes. In the study, status of genes involved in cell cycle progression and apoptosis was evaluated in a panel of 17 frozen primary acral melanomas. NRAS mutations were found in 17% of the tumors. In contrast, BRAF mutations were not found. Gains of AURKA gene (20q13.3) were detected in 37.5% of samples, gains of CCND1 gene (11q13) or TERT gene (5p15.33) in 31.2% and gains of NRAS gene (1p13.2) in 25%. Alterations in 9p21 were identified in 69% of tumors. Gains of 11q13 and 20q13 were mutually exclusive, and 1p13.2 gain was associated with 5p15.33. Our findings showed that alterations in RAS-related pathways are present in 87.5% of acral lentiginous melanomas.

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