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Updated: Mar 29, 2026
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Comparative Lesions Analysis Through a Targeted Sequencing Approach
Published on: November 5, 2019
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Pan-Cancer Targeted Sequencing Reveals Genomic Heterogeneity and Prognostic Subgroups in Urothelial Bladder Cancer.
Dimitar Ugrinovski1,2, Skender Saidi3, Viktor Stankov3
1Laboratory for Molecular Biology and Genomics, Institute of Biology, Faculty of Natural Sciences and Mathematics, Ss. Cyril and Methodius University, 1000 Skopje, North Macedonia.
Cancers
|March 28, 2026
Summary
Pan-cancer sequencing of urothelial bladder cancer (UBC) identified key genetic drivers and prognostic markers. Broader genomic profiling revealed actionable alterations and improved risk stratification potential for UBC patients.
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- Urothelial bladder cancer (UBC) is molecularly diverse.
- Existing sequencing often uses limited, cancer-specific panels.
- The utility of broader pan-cancer assays for UBC is not well-established.
Purpose of the Study:
- To assess the clinical utility of pan-cancer targeted sequencing in UBC.
- To identify recurrent genomic alterations and their prognostic significance.
- To explore gene co-occurrence patterns and compare findings with existing datasets.
Main Methods:
- Targeted next-generation sequencing on 100 UBC tumor samples.
- Analysis of single-nucleotide variants, small insertions/deletions, and copy-number alterations.
- Correlation of genomic findings with clinicopathological features, disease-free survival (DFS), and overall survival (OS).
Main Results:
- Recurrent alterations in FGFR3 (~50%), TP53 (~35%), STAG2 (~25%), and PIK3CA (~20%) were identified.
- TP53 mutations correlated with worse OS; STAG2 alterations with improved OS.
- Pan-cancer panel detected actionable mutations (e.g., BRCA1, ALK) and revealed FGFR3/PIK3CA co-occurrence and FGFR3/TP53 mutual exclusivity.
Conclusions:
- Pan-cancer sequencing offers a comprehensive genomic view of UBC, surpassing bladder-specific panels.
- TP53 and STAG2 emerge as significant prognostic markers for UBC.
- Broader genomic profiling aids in biologically informed risk stratification for urothelial bladder cancer.
