Xia Qi-Dong, Sun Jian-Xuan, Yao Zhi-Peng, Lu Jun-Lin, Liu Chen-Qian, Xu Jin-Zhou, An Ye, Xu Meng-Yao, Zhang Si-Han, Zhong Xing-Yu, Zeng Na, Ma Si-Yang, He Hao-Dong, Hu Heng-Long, Hu Jia, Lu Yi, Li Bing, Chen Yao-Bing, Liu Zheng, Wang Shao-Gang
Department and Institute of Urology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Department of Urology, Sun Yat-sen Memorial Hospital, Sun Yat-sen University, Guangzhou, China.
NPJ Precis Oncol. 2024 Oct 1;8(1):216. doi: 10.1038/s41698-024-00725-4.
We aimed to investigate the genomic and tumor microenvironmental (TME) profiles in non-muscle invasive bladder cancer (NMIBC) and explore potential predictive markers for Bacillus Calmette-Guérin (BCG) treatment response in high-risk NMIBC patients (according to European Association of Urology (EAU) risk stratification). 40 patients with high-risk NMIBC (cTis-T1N0M0) who underwent en bloc resection followed by BCG instillation were retrospectively enrolled. Surgical samples were subjected to Next Generation Sequencing (NGS) and multiplex immunofluorescence (mIF) assay. Genomic profiling revealed high prevalences of alterations in TERT (55%), KDM6A (32.5%), FGFR3(30%), PIK3CA (30%), TP53(27.5%) and ARID1A (20%). TME analysis showed different proportions of macrophages, NK cells, T cells subsets in tumoral and stromal compartment. Multivariate analysis identified TERT C228T and alteration in KDM6A as two independent factors associated with inferior RFS. The study comprehensively depicted the genomic and TME profiles in NMIBC and identified potential predictive biomarkers for BCG treatment.
我们旨在研究非肌层浸润性膀胱癌（NMIBC）的基因组和肿瘤微环境（TME）特征，并探索高危NMIBC患者（根据欧洲泌尿外科学会（EAU）风险分层）中卡介苗（BCG）治疗反应的潜在预测标志物。回顾性纳入了40例接受整块切除并随后进行BCG灌注的高危NMIBC患者（cTis-T1N0M0）。手术样本进行了二代测序（NGS）和多重免疫荧光（mIF）分析。基因组分析显示TERT（55%）、KDM6A（32.5%）、FGFR3（30%）、PIK3CA（30%）、TP53（27.5%）和ARID1A（20%）的改变发生率较高。TME分析显示肿瘤和基质区室中巨噬细胞、自然杀伤细胞、T细胞亚群的比例不同。多变量分析确定TERT C228T和KDM6A改变是与较差无复发生存期相关的两个独立因素。该研究全面描绘了NMIBC的基因组和TME特征，并确定了BCG治疗的潜在预测生物标志物。
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