ArticleBrain pathology (Zurich, Switzerland)2019
EWSR1-PATZ1 gene fusion may define a new glioneuronal tumor entity.
Article in Brain pathology (Zurich, Switzerland), 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT05151718 (Ependymomics), which is not on this map. Cited by 41 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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.
Ependymomics: Multiomic Approach to Radioresistance of Ependymomas in Children and Adolescents
Who cites it
41 citing papers in PubMed, 79 citations in OpenAlex.
- Article
- The role of the transcription factor PATZ1 in tumorigenesis and metabolic regulation.Journal of cancer research and clinical oncology · 2025Review
- Indolent Abdominal Wall Round Cell Sarcoma With EWSR1-PATZ1 Fusion: A Case Report and Literature Review.Cureus · 2025Article
- Glioneuronal tumors PATZ1-fused: clinico-molecular and DNA methylation signatures for a variety of morphological and radiological profiles.Acta neuropathologica communications · 2025Article
- Enhancing nanopore adaptive sampling for PromethION using readfish at scale.Genome research · 2025Article
- Neuroepithelial tumors of the central nervous system withFrontiers in oncology · 2025Article
- Rare Oncogenic Fusions in Pediatric Central Nervous System Tumors: A Case Series and Literature Review.Cancers · 2024Review
- Sarcomas with EWSR1::Non-ETS Fusion (EWSR1::NFATC2 and EWSR1::PATZ1).Surgical pathology clinics · 2024Review
- The Imaging Appearance ofJournal of the Belgian Society of Radiology · 2024Article
- Gene partners of the EWSR1 fusion may represent molecularly distinct entities.Translational oncology · 2023Article
- Rare posterior fossa EWSR1-PATZ1 gene fusion glioneuronal tumour-mimicking ependymoma in an adolescent successfully treated with surgery alone.BMJ case reports · 2023Article
- The Swedish childhood tumor biobank: systematic collection and molecular characterization of all pediatric CNS and other solid tumors in Sweden.Journal of translational medicine · 2023Article
- Case report: A unique presentation of a high-grade neuroepithelial tumor with EWSR1::PATZ1 fusion with diagnostic, molecular, and therapeutic insights.Frontiers in oncology · 2023Article
- Article
- Small round cell sarcomas.Nature reviews. Disease primers · 2022Review
- Emerging glioneuronal and neuronal tumors: case-based review.Brain tumor pathology · 2022Review
- The oncogenic fusion landscape in pediatric CNS neoplasms.Acta neuropathologica · 2022Review
- A novel LARGE1-AFF2 fusion expanding the molecular alterations associated with the methylation class of neuroepithelial tumors with PATZ1 fusions.Acta neuropathologica communications · 2022Article
- A Summary of the Inaugural WHO Classification of Pediatric Tumors: Transitioning from the Optical into the Molecular Era.Cancer discovery · 2022Review
- Transcript Complexity and New Insights of Restorer Line in CMS-D8 Cotton Through Full-Length Transcriptomic Analysis.Frontiers in plant science · 2022Article
Corrections and comments
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Authors and funding
20 authors at 6 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
We investigated the challenging diagnostic case of a ventricular cystic glioneuronal tumor with papillary features, by RNA sequencing using the Illumina TruSight RNA Fusion panel. We did not retrieve the SLC44A1-PRKCA fusion gene specific for papillary glioneuronal tumor, but an EWSR1-PATZ1 fusion transcript. RT-PCR followed by Sanger sequencing confirmed the EWSR1-PATZ1 fusion. It matched with canonic EWSR1 fusion oncogene, juxtaposing the entire N-terminal transcriptional activation domain of EWSR1 gene and the C-terminal DNA binding domain of a transcription factor gene, PATZ1. PATZ1 protein belongs to the BTB-ZF (broad-complex, tramtrack and bric-à-brac -zinc finger) family. It directly regulates Pou5f1 and Nanog and is essential to maintaining stemness by inhibiting neural differentiation. EWSR1-PATZ1 fusion is a rare event in tumors: it was only reported in six round cell sarcomas and in three gliomas of three exclusively molecular studies. The first reported glioma was a BRAF
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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.