Mutational analysis of cutaneous squamous cell carcinomas and verrucal keratosis in patients taking BRAF inhibitors

Authors

  • Rachael Anforth,

    1.  Department of Dermatology, Westmead Hospital, Sydney, NSW, Australia
    2.  Sydney Medical School, The University of Sydney, Sydney, NSW, Australia
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    • These authors contributed equally to this work.

  • Varsha Tembe,

    1.  Westmead Millennium Institute for Medical Research, Sydney, NSW, Australia
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    • These authors contributed equally to this work.

  • Tatiana Blumetti,

    1.  Department of Dermatology, Westmead Hospital, Sydney, NSW, Australia
    2.  Sydney Medical School, The University of Sydney, Sydney, NSW, Australia
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  • Pablo Fernandez-Peñas

    1.  Department of Dermatology, Westmead Hospital, Sydney, NSW, Australia
    2.  Sydney Medical School, The University of Sydney, Sydney, NSW, Australia
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Rachael Anforth, e-mail: rachael.anforth@sydney.edu.au

Summary

B-RAF inhibitors (BRAFi) have been shown to improve rates of overall and progression-free survival in patients with stage IV metastatic melanoma positive for the BRAF V600E mutation. However, the main drawback is the development of verrucal keratosis (hyperkeratotic papules with verruca-like characteristics with benign histological findings) and cutaneous squamous cell carcinomas (cuSCC). We have found upstream mutations in RAS as well as PIK3CA in both verrucal keratosis and cuSCC. This suggests that verrucal keratosis is an early clinical presentation of cuSCC in patients on BRAFi.

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