@article{FRANCESCA2025, 
author = {BELARDINILLI FRANCESCA and MICHELA DE MEO and FRANCESCO DEL GIUDICE and CARLO MARIA SCORNAJENGHI and PAOLA GAZZANIGA and ETTORE DE BERARDINIS and LUCA MARINO and FABIO MASSIMO MAGLIOCCA and BENJAMIN INBEH CHUNG and JAN ŁASZKIEWICZ and VALENTINA MAGRI and GIUSEPPE GIANNINI and CHIARA NICOLAZZO},
title = {Exploring the utility of a NGS multigene panel to predict BCG response in patients with non-muscle invasive bladder cancer},
year = {2025},
journal = {Oncology Research},
volume = {33},
number = {3},
pages = {723-731},
keywords = {Non-muscle invasive bladder cancer (NMIBC), Bacillus Calmette-Guérin (BCG), Macropinocytosis, Molecular profile, Next-generation sequencing (NGS)},
url = {https://www.sciopen.com/article/10.32604/or.2024.056282},
doi = {10.32604/or.2024.056282},
abstract = {ObjectivesIntravesical Bacillus Calmette-Guérin (BCG) therapy is a gold standard for patients with high-risk non-muscle invasive bladder cancer (NMIBC). Although a long-lasting therapeutic response is observed in most patients, BCG failure occurs in 30%–50% of patients and a progression to muscle-invasive disease is found in 10%–15%. Therefore, predicting high-risk patients who might not benefit from BCG treatment is critical. The purpose of this study was to identify, whether the presence of specific oncogenic mutations might be indicative of BCG treatment response.MethodsNineteen high-grade NMIBC patients who received intravesical BCG were retrospectively enrolled and divided into “responders” and “non-responders” groups. Tissue samples from transurethral resection of bladder cancer were performed before starting therapy and were examined using a multigene sequencing panel.ResultsMutations in TP53, FGFR3, PIK3CA, KRAS, CTNNB1, ALK and DDR2 genes were detected. TP53 and FGFR3 were found to be the most frequently mutated genes in our cohort (31.6% and 26.3%, respectively), followed by PIK3CA (15.8%). In the BCG-responsive patient group, 90% of samples were found to have mutated genes, with almost 50% of them showing mutations in tyrosine kinase receptors and CTNNB1 genes. On the other hand, in the BCG-unresponsive group, we found mutations in 44.4% of samples, mainly in TP53 gene.ConclusionsOur findings suggest that a Next-Generation Sequencing (NGS) multigene panel is useful in predicting BCG response in patients with NMIBC.}
}