痣样基底细胞癌综合征(NBCCS),也被称为戈林综合征(GS),是一种遗传性疾病,其特征是由于hedgehog信号通路中的突变而发生多种皮肤BCC。使用hedgehog途径抑制剂-vismodegib和sonidegib-已成为一种有前途的治疗策略,用于管理GS患者的BCC。在2012年3月至2024年1月进行的一项回顾性研究中,分析了16名接受sonidegib或vismodegib治疗的Gorlin综合征患者的队列。该研究的主要目标是评估疗效,安全概况,以及该患者人群对口服hedgehog抑制剂的反应持续时间。这项研究评估了各种参数,包括在治疗开始之前和之后形成的新BCC的数量,治疗反应的持续时间和可持续性,以及与hedgehog抑制剂治疗相关的不良反应的发生率。研究结果表明,用刺猬抑制剂持续治疗可以有效抑制新的和现有的BCC的进展。此外,结果表明,与Vismodegib相比,Sonidegib在治疗GS患者的BCCs方面具有更高的疗效和安全性.值得注意的是,发现对Sonidegib的给药方案进行调整可以改善耐受性,而不会损害治疗效果,可能导致治疗反应和疾病控制的持续时间延长。
Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome (GS), is a genetic disorder characterized by the development of multiple cutaneous BCCs due to mutations in the hedgehog signaling pathway. The use of hedgehog pathway inhibitors-vismodegib and sonidegib-has emerged as a promising therapeutic strategy for managing BCCs in individuals with GS. In a retrospective
study conducted between March 2012 and January 2024, a cohort of 16 Gorlin syndrome patients who received treatment with either sonidegib or vismodegib were analyzed. The primary objectives of the
study were to evaluate the efficacy, safety profile, and duration of response to oral hedgehog inhibitors in this patient population. The
study assessed various parameters, including the number of new BCCs that developed before and after treatment initiation, the duration and sustainability of treatment responses, as well as the incidence of adverse effects associated with hedgehog inhibitor therapy. The findings of the
study revealed that sustained treatment with hedgehog inhibitors could effectively suppress the progression of both new and existing BCCs. Furthermore, the results indicated that sonidegib exhibited superior efficacy and safety compared to vismodegib in the treatment of BCCs in individuals with GS. Notably, adjustments to the administration schedule of sonidegib were found to improve tolerability without compromising therapeutic efficacy, potentially leading to prolonged durations of treatment response and disease control.