ArticleScientific reports2018
The ten-year evolutionary trajectory of a highly recurrent paediatric high grade neuroepithelial tumour with MN1:BEND2 fusion.
Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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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.
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Who cites it
18 citing papers in PubMed, 34 citations in OpenAlex.
- Molecular and clinical stratification of astroblastomas: Three distinct fusion-defined groups informing risk-adapted treatment strategies.Neuro-oncology · 2026Article
- Article
- Article
- Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort.Genome medicine · 2025Article
- Lack of classical astroblastoma features in pediatric MN1::BEND2-fused brain tumors.Brain pathology (Zurich, Switzerland) · 2025Article
- MicroRNAs Expression Profile in MN1-Altered Astroblastoma.Biomedicines · 2025Article
- Clinicopathological and molecular characterization of astrocytoma.Frontiers in molecular neuroscience · 2025Article
- Malignant Bone-Forming Neoplasm With NIPBL::BEND2 Fusion.Genes, chromosomes & cancer · 2024Article
- A novel FUS::BEND2 fusion expanding the molecular spectrum of astroblastomas.Free neuropathology · 2024Article
- A Low-grade Sinonasal Sarcoma Harboring EWSR1::BEND2: Expanding the Differential Diagnosis of Sinonasal Spindle Cell Neoplasms.Head and neck pathology · 2023Article
- Gene fusions are frequent in ACTH-secreting neuroendocrine neoplasms of the pancreas, but not in their non-pancreatic counterparts.Virchows Archiv : an international journal of pathology · 2023Article
- Early ependymal tumor with MN1-BEND2 fusion: a mostly cerebral tumor of female children with a good prognosis that is distinct from classical astroblastoma.Journal of neuro-oncology · 2023Review
- Heterogeneous clinicopathological findings and patient-reported outcomes in adults withFrontiers in oncology · 2023Article
- Major Features of the 2021 WHO Classification of CNS Tumors.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2022Review
- The oncogenic fusion landscape in pediatric CNS neoplasms.Acta neuropathologica · 2022Review
- Molecular profiling of pediatric and adolescent ependymomas: identification of genetic variants using a next-generation sequencing panel.Journal of neuro-oncology · 2021Article
- Spinal cord astroblastoma with EWSR1-BEND2 fusion classified as HGNET-MN1 by methylation classification: a case report.Brain tumor pathology · 2021Article
- Molecular identification of CNS NB-FOXR2, CNS EFT-CIC, CNS HGNET-MN1 and CNS HGNET-BCOR pediatric brain tumors using tumor-specific signature genes.Acta neuropathologica communications · 2020Article
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Authors and funding
15 authors at 5 institutions in 3 countries.
Funding
Abstract
Astroblastomas are rare brain tumours which predominate in children and young adults, and have a controversial claim as a distinct entity, with no established WHO grade. Reports suggest a better outcome than high grade gliomas, though they frequently recur. Recently, they have been described to overlap with a newly-discovered group of tumours described as'high grade neuroepithelial tumour with MN1 alteration' (CNS HGNET-MN1), defined by global methylation patterns and strongly associated with gene fusions targeting MN1. We have studied a unique case of astroblastoma arising in a 6 year-old girl, with multiple recurrences over a period of 10 years, with the pathognomonic MN1:BEND2 fusion. Exome sequencing allowed for a phylogenetic reconstruction of tumour evolution, which when integrated with clinical, pathological and radiological data provide for a detailed understanding of disease progression, with initial treatment driving tumour dissemination along four distinct trajectories. Infiltration of distant sites was associated with a later genome doubling, whilst there was evidence of convergent evolution of different lesions acquiring distinct alterations targeting NF-κB. These data represent an unusual opportunity to understand the evolutionary history of a highly recurrent childhood brain tumour, and provide novel therapeutic targets for astroblastoma/CNS HGNET-MN1.
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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.