ArticleActa neuropathologica communications2020
Molecular identification of CNS NB-FOXR2, CNS EFT-CIC, CNS HGNET-MN1 and CNS HGNET-BCOR pediatric brain tumors using tumor-specific signature genes.
Article in Acta neuropathologica communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers, 1 of them a synthesis that pooled it.
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Who cites it
24 citing papers in PubMed, 1 synthesis or guideline pooled it, 54 citations in OpenAlex.
- CNS tumor with EP300::BCOR fusion: discussing its prevalence in adult population.Acta neuropathologica communications · 2023Pooled it
- Molecular and clinical stratification of astroblastomas: Three distinct fusion-defined groups informing risk-adapted treatment strategies.Neuro-oncology · 2026Article
- Central nervous system tumors with BCOR internal tandem duplications: a systematic review of clinical, radiological, and pathological features in 69 cases.Journal of pathology and translational medicine · 2025Article
- crossNN is an explainable framework for cross-platform DNA methylation-based classification of tumors.Nature cancer · 2025Article
- CIC/ATXN1-rearranged tumors in the central nervous system are mainly represented by sarcomas: A comprehensive clinicopathological and epigenetic series.Brain pathology (Zurich, Switzerland) · 2025Article
- FOXR2 in cancer development: emerging player and therapeutic opportunities.Oncology research · 2025Review
- Pediatric central nervous system (CNS) neuroblastoma: A case report.Surgical neurology international · 2024Article
- A novel FUS::BEND2 fusion expanding the molecular spectrum of astroblastomas.Free neuropathology · 2024Article
- Neoadjuvant Chemotherapy with Laser Interstitial Thermal Therapy in Central Nervous System Neuroblastoma: Illustrative Case and Literature Review.Brain sciences · 2023Article
- OpenPBTA: The Open Pediatric Brain Tumor Atlas.Cell genomics · 2023Article
- Mesenchymal non-meningothelial tumors of the central nervous system: a literature review and diagnostic update of novelties and emerging entities.Acta neuropathologica communications · 2023Review
- 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
- Targeted treatment of solid tumors in pediatric precision oncology.Frontiers in oncology · 2023Review
- Intra- and extra-cranial BCOR-ITD tumours are separate entities within the BCOR-rearranged family.The journal of pathology. Clinical research · 2022Article
- Imaging Features with Histopathologic Correlation of CNS High-Grade Neuroepithelial Tumors with aAJNR. American journal of neuroradiology · 2022Article
- Recurrence- and Malignant Progression-Associated Biomarkers in Low-Grade Gliomas and Their Roles in Immunotherapy.Frontiers in immunology · 2022Article
- DNA methylation profiling as a model for discovery and precision diagnostics in neuro-oncology.Neuro-oncology · 2021Review
- Transcriptional profiling of paediatric ependymomas identifies prognostically significant groups.The journal of pathology. Clinical research · 2021Article
- A pediatric cerebral tumor with MN1 alteration and pathological features mimicking carcinoma metastasis: may the terminology "high grade neuroepithelial tumor with MN1 alteration" still be relevant?Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Review
- Molecular Stratification of Childhood Ependymomas as a Basis for Personalized Diagnostics and Treatment.Cancers · 2021Review
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Authors and funding
14 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Four molecular types of rare central nervous system (CNS) tumors have been recently identified by gene methylation profiling: CNS Neuroblastoma with FOXR2 activation (CNS NB-FOXR2), CNS Ewing Sarcoma Family Tumor with CIC alteration (CNS EFT-CIC), CNS high grade neuroepithelial tumor with MN1 alteration (CNS HGNET-MN1) and CNS high grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR). Although they are not represented in 2016 updated WHO classification of CNS tumors, their diagnostic recognition is important because of clinical consequences. We have introduced a diagnostic method based on transcription profiling of tumor specific signature genes from formalin-fixed, paraffin-embedded tumor blocks using NanoString nCounter Technology. Altogether, 14 out of 187 (7.4%) high grade pediatric brain tumors were diagnosed with either of four new CNS categories. Histopathological examination of the tumors confirmed, that they demonstrate a spectrum of morphology mimicking other CNS high grade tumors. However, they also exhibit some suggestive histopathological and immunohistochemical features that allow for a presumptive diagnosis prior to molecular assessment. Clinical characteristics of patients corroborated with the previous findings for CNS EFT-CIC, CNS NB-FOXR2 and CNS HGNET-MN1 patients, with a favorable survival rate for the latter two groups. Among six CNS HGNET-BCOR patients, three patients are long term survivors, suggesting possible heterogeneity within this molecular category of tumors. In summary, we confirmed the effectiveness of NanoString method using a single, multi-gene tumor specific signature and recommend this novel approach for identification of either one of the four newly described CNS tumor entities.
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