ArticleBrain pathology (Zurich, Switzerland)2021
Expanding the spectrum of EWSR1-PATZ1 rearranged CNS tumors: An infantile case with leptomeningeal dissemination.
Article in Brain pathology (Zurich, Switzerland), 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed.
- Unveiling a genetic rarity: intracranial sarcomatous tumor with EWSR1::PATZ1 fusion-a case report and review of the literature.Brain tumor pathology · 2026Article
- 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
- 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
- Rare posterior fossa EWSR1-PATZ1 gene fusion glioneuronal tumour-mimicking ependymoma in an adolescent successfully treated with surgery alone.BMJ case reports · 2023Article
- 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
- Recurrent fusions in PLAGL1 define a distinct subset of pediatric-type supratentorial neuroepithelial tumors.Acta neuropathologica · 2021Article
- PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum.Acta neuropathologica · 2021Article
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Authors and funding
16 authors.
Funding
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Abstract
We report on a case of EWSR1-PATZ1 rearranged brain tumor occurring in a 17 month-old child, originally interpreted as an infantile glioblastoma. Our case shows important analogies with the 2 previously reported cases, including the intraventricular location, the histologic appearance (pushing borders, oligodendrocyte-like morphology, rich vascular network) and the glioneural immunophenotype, supporting the role of these features as relevant clues to the diagnosis. On the other hand, our case displays unique characteristics, i.e. the onset in an infant, the presence of a focal high-grade component and the leptomeningeal dissemination, pointing to the importance of considering this entity in the differential diagnosis of an infantile glial/glioneural tumor.
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