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免疫检查点抑制剂用于患有色素和晚期皮肤状细胞癌的儿童:病例介绍和简要概述

Thilo Gambichler^1,2,3, Julia Hyun⁴, Frank Oellig⁵

¹Department of Dermatology, Dortmund Hospital, University Witten-Herdecke, Faculty of Health/School of Medicine, Dortmund, Germany.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

|March 7, 2025

概括

患有晚期皮肤癌的Xeroderma pigmentosum (XP) 患者通过免疫检查点抑制剂 (ICI) 显示出完全的瘤回归. 这种疗法对于皮肤状细胞癌 (cSCC) 的儿科 XP 患者是有效和安全的.

科学领域:

在瘤学瘤学.
皮肤病学皮肤病学
遗传学是一个遗传学.

背景情况:

Xeroderma pigmentosum (XP) 患者的早期皮肤癌发病率很高,特别是皮肤状细胞癌 (cSCC).
与XP相关的cSCC具有很高的突变负担,这表明免疫检查点抑制剂 (ICI) 的潜在有效性.
XP显著增加了过早死亡的风险,60%的患者在20岁之前死亡.

研究的目的:

报告一个患有XP的儿科病例,该病例的晚期cSCC已通过ICI成功治疗.
评估ICI在XP和高级cSCC儿童的疗效和安全性.
为了为XP患者ICI治疗的有限数据做出贡献.

主要方法:

一名患有XP和转移性面部cSCC的7岁男孩接受了CEMIPLIMAB的系统免疫疗法.
监测临床反应和不良事件.
关于以前报告的XP患者接受ICI治疗的文献综述.

主要成果:

患者经历了原发性和转移性瘤的快速和完全回归.
不良事件与一般人群中的不良事件相似.
之前的报道显示,所有接受ICI治疗的10名XP患者都经历了瘤回归,包括三个儿科病例.

结论:

免疫检查点抑制剂,特别是抗PD-1疗法,在治疗XP的儿科患者的晚期cSCC方面非常有效.
在XP患者中,ICI治疗显示出有利的安全性,与一般人群相似.
这一案例加强了ICI作为XP相关的cSCC治疗选择的潜力,即使在幼儿中也是如此.

关键词:

缺陷的DNA修复缺陷的DNA修复缺陷在Cemiplimab,我们可以看到.童年的童年童年的童年基因皮肤病的基因皮肤病.基因-光皮肤病.凯拉托阿坎托马斯 (Keratoacanthoma) 是一个这就是尼沃卢马布 (nivolumab).这就是Pembrolizumab.

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