ArticleBrain pathology (Zurich, Switzerland)2021
Ependymoma-like tumor with mesenchymal differentiation harboring C11orf95-NCOA1/2 or -RELA fusion: A hitherto unclassified tumor related to ependymoma.
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 16 papers.
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16 citing papers in PubMed, 62 citations in OpenAlex.
- Ependymoma-like tumor with mesenchymal differentiation harboring ZFTA::NCOA2 fusion: a case report.Brain tumor pathology · 2026Article
- A rare case of supratentorial ependymosarcoma harboring ZFTA::RELA fusion.Brain tumor pathology · 2026Article
- ZFTA::YAP1-rearranged ependymoma: is still ZFTA or already YAP?Acta neuropathologica communications · 2026Article
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- TEAD1::NCOA2 fusion driver in primary central nervous system malignancy: case report.Acta neuropathologica · 2025Article
- Novel case of ependymoma-like tumor with mesenchymal differentiation harboring ZFTA::RELA fusion in an adult.Brain tumor pathology · 2024Article
- CNS tumors with PLAGL1-fusion: beyond ZFTA and YAP1 in the genetic spectrum of supratentorial ependymomas.Acta neuropathologica communications · 2024Article
- The multifaceted therapeutic value of targeting steroid receptor coactivator-1 in tumorigenesis.Cell & bioscience · 2024Review
- Subtyping of Group 3/4 medulloblastoma as a potential prognostic biomarker among patients treated with reduced dose of craniospinal irradiation: a Japanese Pediatric Molecular Neuro-Oncology Group study.Acta neuropathologica communications · 2023Article
- ZFTA-fused supratentorial ependymoma with a novel fusion partner, DUX4.Journal of neuropathology and experimental neurology · 2023Article
- Diffusely infiltrating glioma with CREBBP-BCORL1 fusion showing overexpression of not only BCORL1 but BCOR: A case report.Brain tumor pathology · 2022Article
- The oncogenic fusion landscape in pediatric CNS neoplasms.Acta neuropathologica · 2022Review
- Review
- Recurrent fusions in PLAGL1 define a distinct subset of pediatric-type supratentorial neuroepithelial tumors.Acta neuropathologica · 2021Article
- Molecular Stratification of Childhood Ependymomas as a Basis for Personalized Diagnostics and Treatment.Cancers · 2021Review
- Supratentorial non-RELA, ZFTA-fused ependymomas: a comprehensive phenotype genotype correlation highlighting the number of zinc fingers in ZFTA-NCOA1/2 fusions.Acta neuropathologica communications · 2021Article
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32 authors at 14 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
Recurrent fusion genes involving C11orf95, C11orf95-RELA, have been identified only in supratentorial ependymomas among primary CNS tumors. Here, we report hitherto histopathologically unclassifiable high-grade tumors, under the tentative label of "ependymoma-like tumors with mesenchymal differentiation (ELTMDs)," harboring C11orf95-NCOA1/2 or -RELA fusion. We examined the clinicopathological and molecular features in five cases of ELTMDs. Except for one adult case (50 years old), all cases were in children ranging from 1 to 2.5 years old. All patients presented with a mass lesion in the cerebral hemisphere. Histologically, all cases demonstrated a similar histology with a mixture of components. The major components were embryonal-appearing components forming well-delineated tumor cell nests composed of small uniform cells with high proliferative activity, and spindle-cell mesenchymal components with a low- to high-grade sarcoma-like appearance. The embryonal-appearing components exhibited minimal ependymal differentiation including a characteristic EMA positivity and tubular structures, but histologically did not fit with ependymoma because they lacked perivascular pseudorosettes, a histological hallmark of ependymoma, formed well-delineated nests, and had diffuse and strong staining for CAM5.2. Molecular analysis identified C11orf95-NCOA1, -NCOA2, and -RELA in two, one, and two cases, respectively. t-distributed stochastic neighbor embedding analysis of DNA methylation data from two cases with C11orf95-NCOA1 or -NCOA2 and a reference set of 380 CNS tumors revealed that these two cases were clustered together and were distinct from all subgroups of ependymomas. In conclusion, although ELTMDs exhibited morphological and genetic associations with supratentorial ependymoma with C11orf95-RELA, they cannot be regarded as ependymoma. Further analyses of more cases are needed to clarify their differences and similarities.
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