Queiroz Marcello Moro, de Souza Zenaide Silva, Gongora Aline Bobato Lara, de Galiza Barbosa Felipe, Buchpiguel Carlos Alberto, de Castro Marilia Germanos, de Macedo Mariana Petaccia, Coelho Rafael Ferreira, Sokol Ethan Samuel, Camargo Anamaria Aranha, Bastos Diogo Assed
Oncology Center, Hospital Sírio-Libanês (HSL), Rua Dona Adma Jafet, 91, São Paulo, SP, 01308-050, Brazil.
https://orcid.org/0000-0001-5789-3397.
Ecancermedicalscience. 2021 Oct 22;15:1306. doi: 10.3332/ecancer.2021.1306. eCollection 2021.
Immunotherapy has recently been incorporated into the treatment guidelines for metastatic urothelial carcinoma. Nevertheless, the role of prognostic and predictive biomarkers in this setting is not completely defined. To date, PD-L1 expression and a high tumour mutational burden (TMB) seem to predict better responses to immune checkpoint inhibitors, but patients without these biomarkers may still respond to immunotherapy. There are some caveats regarding these biomarkers, such as lack of standardisation of techniques, tumour heterogeneity and other factors influencing the tumour microenvironment. Genomic signatures are other promising emerging strategies. We hereby discuss the management of a 70-year-old man with a metastatic recurrence of urothelial carcinoma within 1 year after neoadjuvant chemotherapy and radical cystectomy. Tumour next-generation sequencing showed a high TMB and a (PD-L1) amplification. The patient was treated with pembrolizumab and achieved a complete response.
免疫疗法最近已被纳入转移性尿路上皮癌的治疗指南。然而，在这种情况下，预后和预测生物标志物的作用尚未完全明确。迄今为止，PD-L1表达和高肿瘤突变负荷（TMB）似乎能预测对免疫检查点抑制剂有更好的反应，但没有这些生物标志物的患者仍可能对免疫疗法有反应。关于这些生物标志物存在一些注意事项，例如技术缺乏标准化、肿瘤异质性以及其他影响肿瘤微环境的因素。基因组特征是其他有前景的新兴策略。我们在此讨论一名70岁男性在新辅助化疗和根治性膀胱切除术后1年内出现转移性尿路上皮癌复发的治疗情况。肿瘤二代测序显示高TMB和（PD-L1）扩增。该患者接受帕博利珠单抗治疗并获得完全缓解。
