Boll Lilian Marie, Vázquez Montes de Oca Sergio, Camarena Marta E, Castelo Robert, Bellmunt Joaquim, Perera-Bel Júlia, Albà M Mar
Hospital del Mar Research Institute (HMRIB), Barcelona, Spain.
Department of Medicine and Life Sciences, Universitat Pompeu Fabra (UPF), Barcelona, Spain.
Nat Commun. 2025 Feb 20;16(1):1213. doi: 10.1038/s41467-025-56462-0.
Advanced bladder cancer patients show very variable responses to immune checkpoint inhibitors (ICIs) and effective strategies to predict response are still lacking. Here we integrate mutation and gene expression data from 707 advanced bladder cancer patients treated with anti-PD-1/anti-PD-L1 to build highly accurate predictive models. We find that, in addition to tumor mutational burden (TMB), enrichment in the APOBEC mutational signature, and the abundance of pro-inflammatory macrophages, are major factors associated with the response. Paradoxically, patients with high immune infiltration do not show an overall better response. We show that this can be explained by the activation of immune suppressive mechanisms in a large portion of these patients. In the case of non-immune-infiltrated cancer subtypes, we uncover specific variables likely to be involved in the response. Our findings provide information for advancing precision medicine in patients with advanced bladder cancer treated with immunotherapy.
晚期膀胱癌患者对免疫检查点抑制剂(ICI)的反应差异很大,目前仍缺乏预测反应的有效策略。在此,我们整合了707例接受抗PD-1/抗PD-L1治疗的晚期膀胱癌患者的突变和基因表达数据,以构建高度准确的预测模型。我们发现,除肿瘤突变负荷(TMB)外,APOBEC突变特征的富集以及促炎巨噬细胞的丰度是与反应相关的主要因素。矛盾的是,免疫浸润高的患者总体反应并未更好。我们表明,这可以通过这些患者中很大一部分免疫抑制机制的激活来解释。在非免疫浸润性癌症亚型的情况下,我们发现了可能与反应有关的特定变量。我们的研究结果为推进免疫治疗的晚期膀胱癌患者的精准医学提供了信息。