ArticleCancer cytopathology2017
Next-generation sequencing of urine specimens: A novel platform for genomic analysis in patients with non-muscle-invasive urothelial carcinoma treated with bacille Calmette-Guérin.
Article in Cancer cytopathology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed.
- New Perspectives on the Role of Liquid Biopsy in Bladder Cancer: Applicability to Precision Medicine.Cancers · 2024Review
- Feasibility and tissue concordance of genomic sequencing of urinary cytology in upper tract urothelial carcinoma.Urologic oncology · 2023Article
- Identifying novel biomarkers associated with bladder cancer treatment outcomes.Frontiers in oncology · 2023Review
- Trends in urine biomarker discovery for urothelial bladder cancer: DNA, RNA, or protein?Translational andrology and urology · 2021Review
- Advances in bladder cancer biology and therapy.Nature reviews. Cancer · 2021Review
- Article
- Molecular profiling for precision cancer therapies.Genome medicine · 2020Review
- Bladder cancer, a unique model to understand cancer immunity and develop immunotherapy approaches.The Journal of pathology · 2019Review
- Diagnostic biomarkers in non-muscle invasive bladder cancer.World journal of urology · 2019Review
- Massively parallel sequencing of urinary DNA-the dawn of non-invasive bladder cancer detection and surveillance?Translational cancer research · 2019Article
- Unmasking molecular profiles of bladder cancer.Investigative and clinical urology · 2018Review
- ARID1A-deficiency in urothelial bladder cancer: No predictive biomarker for EZH2-inhibitor treatment response?PloS one · 2018Article
- Opportunities of next-generation sequencing in non-muscle invasive bladder cancer outcome prediction.Translational andrology and urology · 2017Review
- Biomarker-guided selection of intravesical therapy in high-risk non-muscle invasive bladder cancer: A contemporary review.Therapeutic advances in urologyReview
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9 authors.
Funding
Abstract
backgroundBiopsies from patients with high-risk (HR) non-muscle-invasive urothelial carcinoma (NMIUC), especially flat urothelial carcinoma in situ, frequently contain scant diagnostic material or denuded mucosa only, and this precludes further extensive genomic analysis. This study evaluated the use of next-generation sequencing (NGS) analysis of urine cytology material from patients with HR NMIUC in an attempt to identify genetic alterations that might correlate with clinical features and responses to bacille Calmette-Guérin (BCG) treatment.
methodsForty-one cytology slides from patients with HR NMIUC treated with intravesical BCG were selected for this study. Histological confirmation was available for all cases. The specimens were subjected to NGS analysis with a customized targeted exome capture assay composed of 341 genes.
resultsIn this cohort, genomic alterations were successfully identified in all cytology samples. Mutations were detected down to a 2% allele frequency and chromosomal rearrangements including copy number alterations and gene fusions were identified. The most frequently altered genes included telomerase reverse transcriptase (TERT), tumor protein 53 (TP53), Erb-B2 receptor tyrosine kinase 2 (ERBB2), and chromatin remodeling genes such as lysine demethylase 6A (KDM6A) and AT-rich interaction domain 1A (ARID1A). For patients with matched tumor tissue, cytology specimens revealed all mutations detected in tissue as well as additional mutations, and this suggested that urine might more effectively capture the full genetic heterogeneity of disease than an individual cystectomy. Alterations in multiple genes correlated with clinical and histopathological features, including responses to BCG treatment, flat architecture versus papillary architecture, and smoking history.
conclusionsUrine specimens can replace tissue as a substrate for NGS analysis of HR NMIUC. Several genomic alterations identified in urine specimens might be associated with histological features and clinical characteristics. Cancer Cytopathol 2017;125:416-26. © 2017 American Cancer Society.
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