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.
痣样基底细胞癌综合征（NBCCS），亦称戈林综合征（GS），是一种因刺猬信号通路基因突变导致多发性皮肤基底细胞癌的遗传性疾病。针对该通路抑制剂——维莫德吉与索尼德吉的应用，已成为治疗戈林综合征患者基底细胞癌的潜在有效策略。本研究回顾性分析了2012年3月至2024年1月期间接受索尼德吉或维莫德吉治疗的16例戈林综合征患者队列，主要评估口服刺猬抑制剂在该人群中的疗效、安全性及应答持续时间。研究通过对比治疗前后新发基底细胞癌数量、治疗应答的持续性与稳定性，以及药物相关不良反应发生率等参数发现：持续应用刺猬抑制剂可有效抑制新发及现有基底细胞癌的进展。进一步分析表明，索尼德吉在治疗戈林综合征相关基底细胞癌时较维莫德吉展现出更优的疗效与安全性。值得注意的是，调整索尼德吉的给药方案可在不影响疗效的前提下提升耐受性，这可能有助于延长治疗应答时间并实现更持久的疾病控制。
肿瘤(癌症)患者之家