ArticleNeuropathology : official journal of the Japanese Society of Neuropathology2024
A case of disseminated spinal astroblastoma harboring a MAMLD1::BEND2 fusion.
Article in Neuropathology : official journal of the Japanese Society of Neuropathology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 9 citations in OpenAlex.
- Case report of a rare TCF3::BEND2-fused primary intracranial neuroepithelial neoplasm in a female child.Brain tumor pathology · 2026Article
- A novel BEND2 monoclonal antibody enables highly specific immunohistochemical diagnosis of BEND2-fusion astroblastomas.Acta neuropathologica · 2026Article
- A pediatric low-grade sinonasal mesenchymal tumor harboring a novel CHD9::BEND2 fusion.Virchows Archiv : an international journal of pathology · 2025Article
- Article
- A primary intracranial neuroepithelial neoplasm with novel TCF3::BEND2 fusion: a case report.Acta neuropathologica communications · 2024Article
- Astroblastoma with MN1::BEND2 in an elderly patient: A case report and review of the literature.Brain tumor pathology · 2024Article
- A novel FUS::BEND2 fusion expanding the molecular spectrum of astroblastomas.Free neuropathology · 2024Article
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
Abstract
Astroblastoma, MN1-altered, is a rare neoplasm of the central nervous system (CNS). This malignancy shares similar histopathological features with other CNS tumors, including ependymomas, making it challenging to diagnose. DNA methylation profiling is a new and robust technique that may be used to overcome this diagnostic hurdle. We report the case of a now 25-year-old female diagnosed with what was initially called an ependymoma located in the cervical spine at the age of 2 years old. After initial resection, the tumor recurred multiple times and within 2 years of diagnosis had disseminated disease throughout the brain and spinal cord. She has now undergone over two decades of treatment, including multiple surgical resections, radiation therapy, and administration of numerous chemotherapeutic agents. In 2021, the patient presented to our institution with lumbosacral radicular symptoms due to enlarging lesions within the lumbosacral spine. Reexamination of formalin-fixed, paraffin-embedded material from the patient's tumor using genomic DNA methylation profiling resulted in a diagnostic change from grade III anaplastic ependymoma to astroblastoma, MN1-altered. This work describes another confirmed case of astroblastoma, MN1-altered, to the growing body of literature.
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Registered trials
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.