描述真实世界转移性尿路上皮癌 (mUC) 患者队列的分子概况，并评估下一代测序 (NGS) 组合在指导 mUC 患者治疗中的益处以及推荐的 DNA 匹配治疗的结果由多学科分子肿瘤委员会 (MMTB) 进行。这是对真实世界 mUC 成年患者队列的单中心分析，该队列包括一项正在进行的试验，旨在评估 NGS 对实体瘤的临床效用。对每位患者进行基因组分析，其中大多数使用 Ion Torrent Oncomine Focus Assay。 MMTB 会议期间讨论了基因组结果。我们纳入了 43 名接受铂类联合疗法和免疫疗法治疗的 mUC 患者。 25 名患者（58.1%；95% CI 43.4-72.9）至少有一种肿瘤致病性改变。 MMTB 将我们现实世界 mUC 患者队列中发现的 33 种肿瘤致病性改变中的 16 种 (48.5%) 分类为 ESCAT I，这是可操作的最高级别。在排除不适合靶向治疗的患者后，MMTB 为 7 名患者提供了匹配治疗指南。在这些患者中，三名患者获得部分缓解，总体缓解率为 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）。 ）。考虑到我们现实世界队列中存在致病性改变的患者比例很高，以及接受靶向治疗的患者的疗效数据，我们建议所有 mUC 患者在诊断时接受 NGS。© 2024。作者，独家获得 Federación de Sociedades Españolas de Oncología (FESEO) 的许可。

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.© 2024. The Author(s), under exclusive licence to Federación de Sociedades Españolas de Oncología (FESEO).