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

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.

• Authors: Marco Rubatto, Martina Merli, Gianluca Avallone, Andrea Agostini, Luca Mastorino, Virginia Caliendo, Amelia Barcellini, Viviana Vitolo, Francesca Valvo, Maria Teresa Fierro, Simone Ribero, Pietro Quaglino
• Journal: Oncotarget (Oncotarget) Vol. 12 Issue 11 Pg. 1116-1121 (May 25 2021) ISSN: 1949-2553 [Electronic] United States
• PMID: 34084285 (Publication Type: Journal Article)
• Copyright: Copyright: © 2021 Rubatto et al.