■膀胱癌(BC)是全球第10大最常见的恶性肿瘤。BC的高复发率导致显著的治疗挑战。随着分子生物学技术的发展,研究表明,基因异常与BC的发生、发展密切相关。本研究分析BC患者组织标本中基因突变的检测结果,探讨成纤维细胞生长因子受体3(FGFR3)与BC预后及复发的关系。
■本研究检查了82例中国BC患者。在这些病人中,34例接受根治性膀胱切除术(RC),48例接受经尿道膀胱灌注电切术。此外,对样品进行多基因组靶向下一代测序(NGS).
■突变谱显示C>T是最常见的碱基取代。单核苷酸多态性(SNP)和缺失(DEL)是我们队列中常见的变异类型。前10位突变基因为ROS1(37%),PIK3CA(35%),FGFR3(34%),BRAF(34%),ERBB2(32%),ALK(27%),RET(27%),NTRK1(24%),MET(23%),EGFR(18%)。在非肌肉浸润性膀胱癌中检测到FGFR3突变的频率更高(0a期,I)患者比肌肉浸润性膀胱癌(II期,III,和IV)患者。FGFR3的前3种改变类型是p.Ser249Cys,p.Tyr375Cys,和p.Arg248Cys.
■本研究检查了FGFR3的突变类型和频率以及具有FGFR突变的中国BC患者的预后。我们希望我们的发现能够优化BC患者的临床个体化策略。
UNASSIGNED: Bladder cancer (BC) is the 10th most common malignancy worldwide. The high recurrence rates of BC lead to significant treatment challenges. With the development of molecular biology techniques, research has shown that gene abnormalities are closely related to the occurrence and development of BC. This study analyzed the detection results of gene mutations in the tissue samples of BC patients and explored the relationship between fibroblast growth factor receptor 3 (FGFR3) and the prognosis and recurrence of BC.
UNASSIGNED: This study examined 82 Chinese patients with BC. Of these patients, 34 underwent radical cystectomy (RC), and 48 underwent transurethral resection with intravesical instillation. In addition, multi-gene panel targeted next-generation sequencing (NGS) of the samples was performed.
UNASSIGNED: The mutational spectra revealed that C > T was the most common base substitution. Single nucleotide polymorphism (SNP) and deletion (DEL) were the common variant types in our cohort. The top 10 mutant genes were ROS1 (37%), PIK3CA (35%), FGFR3 (34%), BRAF (34%), ERBB2 (32%), ALK (27%), RET (27%), NTRK1 (24%), MET (23%), and EGFR (18%). FGFR3 mutations were detected more frequently in non-muscle-invasive bladder cancer (stages 0a, I) patients than in muscle-invasive bladder cancer (stage II, III, and IV) patients. The top 3 altered types of FGFR3 were p.Ser249Cys, p.Tyr375Cys, and p.Arg248Cys.
UNASSIGNED: This study examined the mutated types and frequency of FGFR3 and the prognosis of Chinese BC patients with FGFR mutations. We hope that our findings will enable clinical individualization strategies for BC patients to be optimized.