Abstract

Detecting genomic alterations (GAs) in advanced urothelial carcinoma (aUC) can expand treatment options by identifying candidates for targeted therapies. Erdafitinib is FDA-approved for patients with platinum-refractory aUC with activating mutation or fusion in FGFR2/3. We explored the prevalence and spectrum of FGFR2/3 GAs identified with plasma cfDNA NGS testing (Guardant360) in 997 patients with aUC. FGFR2/3 GAs were detected in 201 patients (20%) with characterized activating GAs in 141 (14%). Our results indicate the Guardant360-based FGFR2/3 GA detection rate is similar to those described from previous studies employing tumor tissue testing, suggesting that plasma-based cfDNA NGS may non-invasively identify candidates for anti-FGFR targeted therapies.

中文翻译：

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晚期尿路上皮癌患者无细胞DNA中FGFR2 / 3改变的光谱

摘要

在晚期尿路上皮癌（aUC）中检测基因组改变（GAs）可通过确定靶向治疗的候选药物来扩展治疗选择。厄达菲替尼已获得FDA批准，用于FGFR2 / 3激活突变或融合的铂类难治性aUC患者。我们探讨了通过血浆cfDNA NGS检测（Guardant360）鉴定的997例aUC患者中FGFR2 / 3 GA的发生率和光谱。在201位患者（20％）中检测到FGFR2 / 3 GAs，其中141位（14％）具有特征性激活GAs。我们的结果表明基于Guardant360的FGFR2 / 3 GA检测率与先前采用肿瘤组织测试的研究中描述的检测率相似，这表明基于血浆的cfDNA NGS可以无创地鉴定抗FGFR靶向疗法的候选药物。