ArticleBMJ case reports2019
Atypical central neurocytoma with novel EWSR1-ATF1 fusion and MUTYH mutation detected by next-generation sequencing.
Article in BMJ case reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 12 citations in OpenAlex.
- Intracranial mesenchymal tumor, FET::CREB fusion-positive: An integrative analysis of 81 cases.Neuro-oncology · 2026Article
- A Novel GermlineHuman mutation · 2025Article
- Neuroepithelial tumors of the central nervous system withFrontiers in oncology · 2025Article
- Review
- Loss of clear cell characteristics in aggressive clear cell odontogenic carcinoma: a case report.Diagnostic pathology · 2024Article
- Potential prognostic determinants for FET::CREB fusion-positive intracranial mesenchymal tumor.Acta neuropathologica communications · 2024Review
- Intraventricular central neurocytoma molecularly defined as extraventricular neurocytoma: a case representing the discrepancy between clinicopathological and molecular classifications.Brain tumor pathology · 2023Article
- Whole Exome Sequencing Identifies PHF14 Mutations in Neurocytoma and Predicts Responsivity to the PDGFR Inhibitor Sunitinib.Biomedicines · 2022Article
- Molecular Characteristics of Genes and the Immune Microenvironment of a Rare Chest Malignant Tumor (Pulmonary Clear Cell Sarcoma): A Case Report.Frontiers in oncology · 2021Article
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Authors and funding
4 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
We present the case of a 13-year-old boy with a very unusual periventricular atypical central neurocytoma with unique molecular features treated with subtotal surgical resection and photon intensity-modulated radiotherapy. Histological features were most consistent with atypical central neurocytoma. However, next-generation sequencing analysis revealed a novel EWSR1-ATF1 gene fusion (EWSR1-ATF1) as well as a MUTYH mutation. The EWSR1-ATF1 raised the possibility of Ewing sarcoma or angiomatoid fibrous histiocytoma, however, FLI-1 immunohistochemistry was negative. MUTYH mutations have been reported in diffuse midline paediatric glioma. The role of EWSR1-ATF1 and MUTYH mutations in central nervous system tumours is not well established. We present the first case of EWSR1-ATF1 and MUTYH mutation in a rare paediatric atypical central neurocytoma. Further studies are indicated to elucidate the consequences of these gene alterations in the context of paediatric central nervous system tumours as well as to investigate the potential role for targeted therapies.
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