ArticleVirchows Archiv : an international journal of pathology2017
Spectrum of genetic mutations in de novo PUNLMP of the urinary bladder.
Article in Virchows Archiv : an international journal of pathology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Grading of bladder cancer: updates, controversies and practical solutions.Histopathology · 2026Review
- Bladder cancer variants share aggressive features including a CA125+ cell state and targetable TM4SF1 expression.Nature communications · 2025Article
- [Urinary bladder: tumor precursors and non-invasive carcinoma].Pathologie (Heidelberg, Germany) · 2025Review
- An overview of the role of telomeres and telomerase in pre‑neoplastic lesions (Review).Molecular and clinical oncology · 2023Review
- Targeted-sequence of normal urothelium and tumor of patients with non-muscle invasive bladder cancer.Scientific reports · 2022Article
- Toward urinary cell-free DNA-based treatment of urothelial carcinoma: a narrative review.Translational andrology and urology · 2021Review
- Clinical Application ofFrontiers in oncology · 2021Review
- TERT C228T mutation in non-malignant bladder urothelium is associated with intravesical recurrence for patients with non-muscle invasive bladder cancer.Molecular oncology · 2020Article
- Mutational Landscape and Environmental Effects in Bladder Cancer.International journal of molecular sciences · 2020Review
- A Urine-Based Liquid Biopsy Method for Detection of Upper Tract Urinary Carcinoma.Frontiers in oncology · 2020Article
- Clinical Significance of Hotspot Mutation Analysis of Urinary Cell-Free DNA in Urothelial Bladder Cancer.Frontiers in oncology · 2020Article
- A new era in the detection of urothelial carcinoma by sequencing cell-free DNA.Translational andrology and urology · 2019Article
- Incidence and distribution of UroSEEK gene panel in a multi-institutional cohort of bladder urothelial carcinoma.Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc · 2019Article
- Diagnostic potential of TERT promoter and FGFR3 mutations in urinary cell-free DNA in upper tract urothelial carcinoma.Cancer science · 2019Article
- Targeted sequencing of plasmacytoid urothelial carcinoma reveals frequent TERT promoter mutations.Human pathology · 2019Article
- Telomere Maintenance Mechanisms in Cancer.Genes · 2018Review
- Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy.eLife · 2018Article
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Authors and funding
17 authors at 7 institutions in 5 countries.
Funding
Abstract
Our group and others have previously demonstrated the presence of TERT promoter mutations (TERT-mut) in 60-80% of urothelial carcinomas and some of their histologic variants. Five other genes have been frequently implicated in bladder cancer: FGRF3, TP53, PIK3CA, HRAS, and CDKN2A. In the current study, we sought to determine the prevalence of mutations in TERT and these five other genes in de novo papillary urothelial neoplasms of low malignant potential (PUNLMP) of the urinary bladder. A retrospective search of our archives for PUNLMP was performed and 30 de novo cases were identified and included in the study. We found mutations in TERT (TERT-mut) and FGFR3 (FGFR3-mut) to be the most common alterations in the cohort (63 and 60%, respectively). The majority of the TERT-mut-positive tumors (84%) had a g.1295228C > T alteration with the remaining tumors demonstrating g.1295250C > T. Approximately one fourth of tumors had TP53 mutations. These findings support the potential utility of a uniform genetic mutation panel to detect bladder cancers of various subtypes.
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