ArticleCell death discovery2024
Molecular profiling of a bladder cancer with very high tumour mutational burden.
Article in Cell death discovery, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 4 citations in OpenAlex.
- Patient-derived tumor organoids for personalized cancer immunotherapy: An immunopeptidome-to-validation approach in RCC and BC.Molecular therapy. Oncology · 2026Article
- Molecular Evaluation of RNA-Based Immune Checkpoint Profiling in Clear Cell Renal Cell Carcinoma.Journal of clinical medicine · 2026Article
- Overexpression of MFAP4 inhibits the proliferation, migration, and invasion of bladder cancer cells.Discover oncology · 2026Article
- Plasma metabolomic profiling identifies a metabolic signature for non-muscle-invasive bladder cancer independent of hematuria.Biology direct · 2026Article
- Treatment strategies for locally advanced and metastatic urothelial carcinoma based on molecular profiles: A Review.Histology and histopathology · 2026Review
- Identification of RNA processing-related gene-based bladder cancer subtypes for prognosis and immune landscape assessment.Translational andrology and urology · 2026Article
- Integrative Analysis Reveals the Prognostic Effects of Epigenetic Regulators in Bladder Cancer.Cancer medicine · 2025Article
- Mercury Bioaccumulation in Female Breast Cancer Is Associated to CXCR4 Expression.International journal of molecular sciences · 2025Article
- Molecular mechanisms and translational advances in bladder cancer: from driver genes to precision therapy.Frontiers in oncology · 2025Review
- Aluminum Concentration Is Associated with Tumor Mutational Burden and the Expression of Immune Response Biomarkers in Colorectal Cancers.International journal of molecular sciences · 2024Article
Corrections and comments
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Authors and funding
16 authors at 4 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The increasing incidence of urothelial bladder cancer is a notable global concern, as evidenced by the epidemiological data in terms of frequency, distribution, as well as mortality rates. Although numerous molecular alterations have been linked to the occurrence and progression of bladder cancer, currently there is a limited knowledge on the molecular signature able of accurately predicting clinical outcomes. In this report, we present a case of a pT3b high-grade infiltrating urothelial carcinoma with areas of squamous differentiation characterized by very high tumor mutational burden (TMB), with up-regulations of immune checkpoints. The high TMB, along with elevated expressions of PD-L1, PD-L2, and PD1, underscores the rationale for developing a personalized immunotherapy focused on the use of immune-checkpoint inhibitors. Additionally, molecular analysis revealed somatic mutations in several other cancer-related genes, including TP53, TP63 and NOTCH3. Mutations of TP53 and TP63 genes provide mechanistic insights on the molecular mechanisms underlying disease development and progression. Notably, the above-mentioned mutations and the elevated hypoxia score make the targeting of p53 and/or hypoxia related pathways a plausible personalized medicine option for this bladder cancer, particularly in combination with immunotherapy. Our data suggest a requirement for molecular profiling in bladder cancer to possibly select appropriate immune-checkpoint therapy.
Identifiers
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.