ArticleActa neuropathologica2021
PATZ1 fusions define a novel molecularly distinct neuroepithelial tumor entity with a broad histological spectrum.
Article in Acta neuropathologica, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 75 citations in OpenAlex.
- AOSNP-ADAPTR resource level-based recommendations on practical diagnostic strategies for ependymomas.Brain pathology (Zurich, Switzerland) · 2026Article
- "Updates on diagnostic and prognostic molecular biomarkers of CNS tumors".Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2026Review
- Methylation profiling in CNS tumor diagnostics: a single-centre real-world experience from Central Europe.Virchows Archiv : an international journal of pathology · 2026Article
- Clinical and molecular features of primary gliosarcoma with digital spatial whole-transcriptome analysis of glial and mesenchymal components.Brain pathology (Zurich, Switzerland) · 2026Article
- CNS tumor type prevalence according to age group: An analysis of 21 000 cases confirmed by methylation profiling, with a focus on adolescents and young adults.Neuro-oncology · 2026Article
- Soft-tissue sarcoma with MN1-BEND2 fusion: second reported case and comparative analysis.Journal of surgical case reports · 2026Article
- S100A6 Regulated by PATZ1 Promotes Liver Fibrosis by Activating Hepatic Stellate Cells.Digestive diseases and sciences · 2026Article
- Molecular and clinical stratification of astroblastomas: Three distinct fusion-defined groups informing risk-adapted treatment strategies.Neuro-oncology · 2026Article
- Unveiling a genetic rarity: intracranial sarcomatous tumor with EWSR1::PATZ1 fusion-a case report and review of the literature.Brain tumor pathology · 2026Article
- Whole-Genome Sequencing Reveals a NovelCancers · 2025Article
- The role of the transcription factor PATZ1 in tumorigenesis and metabolic regulation.Journal of cancer research and clinical oncology · 2025Review
- PLAG1 fusions define a third subtype of CNS embryonal tumor with PLAG family gene alteration.Acta neuropathologica · 2025Article
- Ewing Sarcoma, Desmoplastic Small Round Cell Tumor, and Other Round Cell Sarcomas.Hematology/oncology clinics of North America · 2025Review
- Soft tissue sarcoma with MN1 gene fusions: a report of three cases with aggressive clinical behavior.The Journal of pathology · 2025Article
- Glioneuronal tumors PATZ1-fused: clinico-molecular and DNA methylation signatures for a variety of morphological and radiological profiles.Acta neuropathologica communications · 2025Article
- VGLL fusions define a new class of intraparenchymal central nervous system schwannoma.Neuro-oncology · 2025Article
- Comparative Clinical and Imaging-Based Evaluation of Therapeutic Modalities in CNS Embryonal Tumours With PLAGL Amplification.Neuropathology and applied neurobiology · 2025Article
- SNUH methylation classifier for CNS tumors.Clinical epigenetics · 2025Article
- CNS Embryonal Tumor with PLAGL Amplification, a New Tumor in Children and Adolescents: Insights from a Comprehensive MRI Analysis.AJNR. American journal of neuroradiology · 2025Article
- Clinicopathological and molecular characterization of astrocytoma.Frontiers in molecular neuroscience · 2025Article
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62 authors at 20 institutions in 14 countries.
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Abstract
Large-scale molecular profiling studies in recent years have shown that central nervous system (CNS) tumors display a much greater heterogeneity in terms of molecularly distinct entities, cellular origins and genetic drivers than anticipated from histological assessment. DNA methylation profiling has emerged as a useful tool for robust tumor classification, providing new insights into these heterogeneous molecular classes. This is particularly true for rare CNS tumors with a broad morphological spectrum, which are not possible to assign as separate entities based on histological similarity alone. Here, we describe a molecularly distinct subset of predominantly pediatric CNS neoplasms (n = 60) that harbor PATZ1 fusions. The original histological diagnoses of these tumors covered a wide spectrum of tumor types and malignancy grades. While the single most common diagnosis was glioblastoma (GBM), clinical data of the PATZ1-fused tumors showed a better prognosis than typical GBM, despite frequent relapses. RNA sequencing revealed recurrent MN1:PATZ1 or EWSR1:PATZ1 fusions related to (often extensive) copy number variations on chromosome 22, where PATZ1 and the two fusion partners are located. These fusions have individually been reported in a number of glial/glioneuronal tumors, as well as extracranial sarcomas. We show here that they are more common than previously acknowledged, and together define a biologically distinct CNS tumor type with high expression of neural development markers such as PAX2, GATA2 and IGF2. Drug screening performed on the MN1:PATZ1 fusion-bearing KS-1 brain tumor cell line revealed preliminary candidates for further study. In summary, PATZ1 fusions define a molecular class of histologically polyphenotypic neuroepithelial tumors, which show an intermediate prognosis under current treatment regimens.
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