ArticleOncotarget2016
Activation of the basal cell carcinoma pathway in a patient with CNS HGNET-BCOR diagnosis: consequences for personalized targeted therapy.
Article in Oncotarget, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 36 citations in OpenAlex.
- The future of targeted therapies for pediatric central nervous system tumors.Neuro-oncology advances · 2026Review
- 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
- Pediatric high-grade neuroepithelial BCOR tandem duplicated tumor: An illustrative case.Surgical neurology international · 2025Article
- Successful Treatment of a CNS Tumor with BCOR Internal Tandem Duplication: A Case Report.NMC case report journal · 2023Article
- Paediatric BCOR-associated sarcomas with a novel long spliced internal tandem duplication of BCOR exon 15.The journal of pathology. Clinical research · 2022Article
- 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
- BCOR Internal Tandem Duplication Expression in Neural Stem Cells Promotes Growth, Invasion, and Expression of PRC2 Targets.International journal of molecular sciences · 2021Article
- Functional loss of a noncanonical BCOR-PRC1.1 complex accelerates SHH-driven medulloblastoma formation.Genes & development · 2020Article
- Central nervous system high-grade neuroepithelial tumor with BCOR alteration (CNS HGNET-BCOR)-case-based reviews.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Review
- Review
- The "neuroepithelial tumor": Exchanging our trash can for an industrial size dumpster?Free neuropathology · 2020Article
- Genetic characterization of a case of sellar metastasis from bronchial carcinoid neuroendocrine tumor.Surgical neurology international · 2020Article
- High-grade neuroepithelial tumor with BCOR exon 15 internal tandem duplication-a comprehensive clinical, radiographic, pathologic, and genomic analysis.Brain pathology (Zurich, Switzerland) · 2020Article
- Ceritinib-Induced Regression of an Insulin-Like Growth Factor-Driven Neuroepithelial Brain Tumor.International journal of molecular sciences · 2019Article
- IGF1R Is a Potential New Therapeutic Target for HGNET-BCOR Brain Tumor Patients.International journal of molecular sciences · 2019Article
- BCOR involvement in cancer.Epigenomics · 2019Review
- CNS high-grade neuroepithelial tumor with BCOR internal tandem duplication: a comparison with its counterparts in the kidney and soft tissue.Brain pathology (Zurich, Switzerland) · 2018Article
- BCOR-CCNB3 Fusion Positive Sarcomas: A Clinicopathologic and Molecular Analysis of 36 Cases With Comparison to Morphologic Spectrum and Clinical Behavior of Other Round Cell Sarcomas.The American journal of surgical pathology · 2018Article
- Personalized therapy: CNS HGNET-BCOR responsiveness to arsenic trioxide combined with radiotherapy.Oncotarget · 2017Article
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
High grade neuroepithelial tumor of the central nervous system with BCOR alteration (CNS HGNET-BCOR) is a recently described new tumor entity with a dismal prognosis. The objective of this study was to identify and validate pathways deregulated in CNS HGNET-BCOR as basis for targeted therapy approaches.We characterized the BCOR alteration in a pediatric patient with CNS HGNET-BCOR diagnosis by Sanger sequencing and demonstrated an elevated BCOR expression by qRT-PCR and western blot. By whole transcriptome sequencing and Ingenuity Pathway Analysis, we identified the activation of the Sonic Hedgehog (SHH) and of the WNT signaling pathway in two different regions of the primary tumor and of one inoculation metastasis compared to normal brain. We validated the activation of the SHH and of the WNT pathway by qRT-PCR analysis of GLI1 and AXIN2 respectively. GLI1 and AXIN2 were upregulated in the primary tumor and in two inoculation metastases compared to normal brain. Mutational analysis of SMO, PTCH1 and SUFU, three key components of the SHH pathway, revealed a Single Nucleotide Polymorphism (SNP) in PTCH1 (rs357564). We tested the effect of the GLI-inhibitor arsenic trioxide (ATO) on a short-term cell culture isolated from the metastasis. ATO was able to reduce the viability of the cells with an IC50 of 1.3 μM.In summary, these results provide functional evidence of altered BCOR expression and homogeneous coactivation of both the SHH and WNT signaling pathways, building the basis for potential novel therapeutic approaches for patients with a CNS HGNET-BCOR diagnosis.
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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.