ArticleOncotarget2016
Whole exome sequencing of urachal adenocarcinoma reveals recurrent NF1 mutations.
Article in Oncotarget, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 2 of them syntheses that pooled it.
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Who cites it
15 citing papers in PubMed, 2 syntheses or guidelines pooled it, 34 citations in OpenAlex.
- Genetic characteristics and targeted treatments of primary bladder and urachal adenocarcinomas: a systematic review with pooled descriptive genomic analyses.Cancer metastasis reviews · 2026Pooled it
- Progress and prospects of targeted therapy and immunotherapy for urachal carcinoma.Frontiers in pharmacology · 2023Pooled it
- Molecular Basis of Tumorigenesis of Bladder Cancer and Emerging Concepts in Developing Therapeutic Targets.Bladder cancer (Amsterdam, Netherlands) · 2023Review
- Distinct Gene Mutations Are Associated With Clinicopathologic Features in Urachal Carcinoma.American journal of clinical pathology · 2022Article
- Prevalence of APC and PTEN Alterations in Urachal Cancer.Pathology oncology research : POR · 2020Article
- Comparative genomic profiling of glandular bladder tumours.Virchows Archiv : an international journal of pathology · 2020Article
- Current Understanding of Urachal Adenocarcinoma and Management Strategy.Current oncology reports · 2020Review
- Successful treatment of locally advanced urachal adenocarcinoma with peri-operative gemcitabine - cisplatin combination therapy: a case report and perspective on targeted therapies.Central European journal of urology · 2020Article
- Urachal cancer-current concepts of a rare cancer.Der Pathologe · 2019Review
- Neurofibromin 1 expression is negatively correlated with malignancy and prognosis of epithelial ovarian cancer.International journal of clinical and experimental pathology · 2019Article
- [Urachal cancer - current concepts of a rare cancer (German version)].Der Pathologe · 2018Review
- Rapid proteomic analysis for solid tumors reveals LSD1 as a drug target in an end-stage cancer patient.Molecular oncology · 2018Article
- Biomarkers in Urachal Cancer and Adenocarcinomas in the Bladder: A Comprehensive Review Supplemented by Own Data.Disease markers · 2018Review
- Comprehensive Molecular Characterization of Urachal Adenocarcinoma Reveals Commonalities With Colorectal Cancer, Including a Hypermutable Phenotype.JCO precision oncology · 2017Article
- Mutations of KRAS, NRAS, BRAF, EGFR, and PIK3CA genes in urachal carcinoma: Occurence and prognostic significance.Oncotarget · 2016Article
Corrections and comments
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Urachal adenocarcinoma is a rare bladder malignancy arising from the urachal remnant. Given its rarity and the lack of knowledge about its genetic characteristics, optimal management of this cancer is not well defined. Practice patterns vary and outcomes remain poor. In order to identify the genomic underpinnings of this malignancy, we performed whole exome sequencing using seven tumor/normal pairs of formalin fixed archival specimens. We identified recurrent evidence of MAP-kinase pathway activation as three patients had neurofibromin 1 (NF1) mutations, with one of these patients also harboring an oncogenic KRAS G13D mutation. We also observed recurrent evidence of Wnt/β-catenin pathway activation as three patients had oncogenic mutations in APC or RNF43. In addition, somatic copy number analysis revealed focal chromosome 12p amplifications in three samples, resembling findings from testicular germ cell tumors. We describe the genomic landscape of this malignancy in our institutional cohort and propose investigation of the therapeutic potential for MAP-K pathway inhibition in the subset of patients who show evidence of its activation.
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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.