Immunotherapy in Xeroderma Pigmentosum: a case of advanced cutaneous squamous cell carcinoma treated with cemiplimab and a literature review

Abstract

// Marco Rubatto 1 , * , Martina Merli 1 , * , Gianluca Avallone 1 , Andrea Agostini 1 , Luca Mastorino 1 , Virginia Caliendo 1 , Amelia Barcellini 2 , Viviana Vitolo 2 , Francesca Valvo 2 , Maria Teresa Fierro 1 , Simone Ribero 1 , # and Pietro Quaglino 1 , # 1 Department of Medical Sciences, Section of Dermatology, University of Turin, Turin, Italy 2 National Center of Oncological Hadrontherapy (Fondazione CNAO), Pavia, Italy * Co-first authors # Co-first senior authors Correspondence to: Marco Rubatto, email: [email protected] Keywords: xeroderma pigmentosum; immunotherapy; cemiplimab; hadrontherapy; advanced squamous cell carcinoma Received: January 04, 2021     Accepted: May 03, 2021     Published: May 25, 2021 Copyright: © 2021 Rubatto et al. This is an open access article distributed under the terms of the Creative Commons Attribution License (CC BY 3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. ABSTRACT Xeroderma Pigmentosum (XP) is a rare genetic disorder with a poor prognosis due to high photosensitivity in affected patients. Herein, we describe the first case of the use of cemiplimab in a patient with XP, a 19-year-old girl presented with locally advanced squamous cell carcinoma of the right periorbital and nasal region. This treatment has been undertaken after a cycle of proton beam radiotherapy. Besides, it is reported a description of the few cases in the literature describing the effectiveness of immunotherapy on skin cancers in XP-patients. This case is in line with those reported, underlining how anti-PD1 monoclonal antibodies may be a promising treatment in this genodermatosis.

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