Gutiérrez Pérez César, Lastra Aras Enrique, Saiz López Patricia, García Toro Enrique, Blanco Abad Carmen, Rodríguez Ledesma Inmaculada, Pumares González María, Vela Domínguez Miriam, Espinosa Cabria Noelia, Crespo Herrero Guillermo
Department of Medical Oncology, Hospital Universitario de Burgos (HUBU), Av. Islas Baleares, 3, 09006, Burgos, Spain.
Department of Anatomic Pathology, Hospital Universitario de Burgos (HUBU), Burgos, Spain.
Clin Transl Oncol. 2025 Mar;27(3):1211-1220. doi: 10.1007/s12094-024-03651-w. Epub 2024 Aug 15.
To describe the molecular profile of a real-world cohort of patients with metastatic urothelial carcinoma (mUC) and to evaluate the benefit of next-generation sequencing (NGS) panels in guiding therapy in patients with mUC and the outcomes of DNA-matched treatments recommended by a multidisciplinary molecular tumor board (MMTB).
This was a single-center analysis of a real-world cohort of adult patients with mUC included in an ongoing trial that aimed to evaluate the clinical utility of NGS for solid tumors. Genomic analysis was performed for each patient, most of them using the Ion Torrent Oncomine Focus Assay. Genomic results were discussed during MMTB meetings.
We included 43 patients with mUC treated with platinum-based combinations and immunotherapy. Twenty-five patients (58.1%; 95% CI 43.4-72.9) had at least one tumor pathogenic alteration. The MMTB classified 16 (48.5%) of the 33 tumor pathogenic alterations found in our real-world cohort of mUC patients as ESCAT I, which is the maximum grade of actionability. After excluding patients who were not candidates for targeted therapies, the MMTB provided guidance on matched therapy for seven patients. Among these patients, three achieved a partial response for an overall response rate of 42.9%, a median progression-free survival of 7.3 months (95% CI 6.7-7.9) and a median overall survival of 10.9 months (95% CI 2.4-19.5).
We recommend that all patients with mUC undergo NGS at diagnosis given the high percentage of patients with pathogenic alterations in our real-world cohort and the efficacy data of patients treated with targeted therapies.
描述转移性尿路上皮癌（mUC）真实世界队列患者的分子特征，评估二代测序（NGS） panel在指导mUC患者治疗中的益处以及多学科分子肿瘤委员会（MMTB）推荐的DNA匹配治疗的结果。
这是一项对纳入正在进行的旨在评估NGS对实体瘤临床效用试验的mUC成年患者真实世界队列的单中心分析。对每位患者进行基因组分析，大多数患者使用Ion Torrent Oncomine Focus Assay。基因组结果在MMTB会议上进行讨论。
我们纳入了43例接受铂类联合和免疫治疗的mUC患者。25例患者（58.1%；95%CI 43.4-72.9）至少有一处肿瘤致病性改变。MMTB将在我们mUC患者真实世界队列中发现的33处肿瘤致病性改变中的16处（48.5%）归类为ESCAT I，这是可操作性的最高等级。在排除不适合靶向治疗的患者后，MMTB为7例患者提供了匹配治疗的指导。在这些患者中，3例获得部分缓解，总缓解率为42.9%，中位无进展生存期为7.3个月（95%CI 6.7-7.9），中位总生存期为10.9个月（95%CI 2.4-19.5）。
鉴于我们真实世界队列中致病性改变患者的高比例以及接受靶向治疗患者的疗效数据，我们建议所有mUC患者在诊断时进行NGS。
