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Abstract：
Background: Mutations of fibroblast growth factor receptor 3 (FGFR3) are associated with urothelial carcinoma (UC) oncogenesis and are considered an important therapeutic target. Therefore, we evaluated the FGFR3 mutation rate and its clinical significance in urothelial carcinoma (UC) using next-generation sequencing. Methods: A total of 123 patients with UC who were treated at Chonnam National University Hospital (Gwang-ju, Korea) from January 2018 to December 2020 were enrolled. We performed NGS using the Oncomine panel with tumor specimens and blood samples corresponding to each specimen. We analyzed the FGFR3 mutation results according to the type of UC and the effects on early recurrence and progression. Results: The mean age of the patients was 71.39 ± 9.33 years, and 103 patients (83.7%) were male. Overall, the FGFR3 mutation rate was 30.1% (37 patients). The FGFR3 mutation rate was the highest in the non-muscle-invasive bladder cancer (NMIBC) group (45.1%), followed by the muscle-invasive bladder cancer (22.7%) and upper tract UC (UTUC) (14.3%) groups. Patients with FGFR3 mutations had a significantly lower disease stage (p = 0.019) but a high-risk of NMIBC (p < 0.001). Conclusions: Our results revealed that FGFR3 mutations were more prevalent in patients with NMIBC and lower stage UC and associated with a high-risk of NMIBC. Large multicenter studies are needed to clarify the clinical significance of FGFR3 mutations in UC.
摘要：
背景：成纤维细胞生长因子受体3（FGFR3）的突变与尿路上皮癌（UC）的发生有关，被认为是重要的治疗靶标。因此,我们使用下一代测序评估了FGFR3突变率及其在尿路上皮癌(UC)中的临床意义.方法：共有123例UC患者在Chonnam国立大学医院（Gwang-ju，韩国）从2018年1月至2020年12月注册。我们使用Oncomine小组用肿瘤样本和对应于每个样本的血液样本进行NGS。我们根据UC的类型以及对早期复发和进展的影响分析了FGFR3突变结果。结果:患者平均年龄为71.39±9.33岁,103例（83.7%）为男性。总的来说,FGFR3突变率为30.1%(37例).非肌层浸润性膀胱癌(NMIBC)组FGFR3突变率最高(45.1%),其次是肌肉浸润性膀胱癌(22.7%)和上尿路UC(UTUC)(14.3%)组。FGFR3突变患者的疾病分期明显较低（p=0.019），但NMIBC的风险较高（p<0.001）。结论：我们的结果表明，FGFR3突变在NMIBC和低分期UC患者中更为普遍，并且与NMIBC的高风险相关。需要大型多中心研究来阐明FGFR3突变在UC中的临床意义。
