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着色性干皮病的免疫治疗:1例用西米普利单抗治疗的晚期皮肤鳞状细胞癌病例及文献综述

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

作者信息

Rubatto Marco, Merli Martina, Avallone Gianluca, Agostini Andrea, Mastorino Luca, Caliendo Virginia, Barcellini Amelia, Vitolo Viviana, Valvo Francesca, Fierro Maria Teresa, Ribero Simone, Quaglino Pietro

机构信息

Department of Medical Sciences, Section of Dermatology, University of Turin, Turin, Italy.

Co-first authors.

出版信息

Oncotarget. 2021 May 25;12(11):1116-1121. doi: 10.18632/oncotarget.27966.

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.

摘要

着色性干皮病(XP)是一种罕见的遗传性疾病,由于受影响患者的高光敏性,其预后较差。在此,我们描述了第一例将西米普利单抗用于一名XP患者的病例,该患者为一名19岁女孩,患有右眶周和鼻区域的局部晚期鳞状细胞癌。这种治疗是在一轮质子束放射治疗后进行的。此外,本文还报道了文献中少数几例描述免疫疗法对XP患者皮肤癌有效性的病例。该病例与已报道的病例一致,强调了抗PD1单克隆抗体在这种遗传性皮肤病中可能是一种有前景的治疗方法。

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