ArticleBrain pathology (Zurich, Switzerland)2009
Duplication of 7q34 in pediatric low-grade astrocytomas detected by high-density single-nucleotide polymorphism-based genotype arrays results in a novel BRAF fusion gene.
Article in Brain pathology (Zurich, Switzerland), 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 127 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
127 citing papers in PubMed, 245 citations in OpenAlex.
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- Detection of Copy-Number Variations in CNS Tumours From Off-Target Reads of Hybrid-Capture Sequencing.Neuropathology and applied neurobiology · 2026Article
- Pilocytic astrocytoma in pediatric and adult patients: a single-center analysis of 650 cases.Virchows Archiv : an international journal of pathology · 2026Article
- Review
- New and Emerging Therapies for Patients with Low-Grade Glioma.CNS drugs · 2026Review
- Current Perspectives on Pediatric Low-Grade Gliomas: Focus on BRAF and MEK Inhibition.Brain tumor research and treatment · 2026Review
- Overexpression of CCK Neuropeptide in brain is linked to ZBTB20 mutations: potential diagnostic relevance in glioblastoma.BMC medical genomics · 2025Article
- Future perspective of targeted treatments in pediatric low-grade glioma (pLGG): the evolution of standard-of-care and challenges of a new era.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2024Review
- Advances in the treatment of BRAF-mutant low-grade glioma with MAPK inhibitors.Translational pediatrics · 2024Article
- Delayed diagnosis of diffuse leptomeningeal glioneuronal tumour in a young child presenting with communicating hydrocephalus.BMJ case reports · 2022Article
- Atypical induction of HIF-1α expression by pericellular Notch1 signaling suffices for the malignancy of glioblastoma multiforme cells.Cellular and molecular life sciences : CMLS · 2022Article
- Regulation of TORC1 by MAPK Signaling Determines Sensitivity and Acquired Resistance to Trametinib in Pediatric BRAFV600E Brain Tumor Models.Clinical cancer research : an official journal of the American Association for Cancer Research · 2022Article
- Low-grade epilepsy-associated neuroepithelial tumors: Tumor spectrum and diagnosis based on genetic alterations.Frontiers in neuroscience · 2022Review
- Implications of BRAF V600E mutation in gliomas: Molecular considerations, prognostic value and treatment evolution.Frontiers in oncology · 2022Review
- Molecular alterations of low-grade gliomas in young patients: Strategies and platforms for routine evaluation.Neuro-oncology practice · 2021Review
- Polymorphous Low-Grade Neuroepithelial Tumor of the Young (PLNTY): Molecular Profiling Confirms Frequent MAPK Pathway Activation.Journal of neuropathology and experimental neurology · 2021Article
- Copy Number Variation and Rearrangements Assessment in Cancer: Comparison of Droplet Digital PCR with the Current Approaches.International journal of molecular sciences · 2021Review
- Discovery of a rareCancer biology & therapy · 2021Article
- Adult pilocytic astrocytoma in the molecular era: a comprehensive review.CNS oncology · 2021Review
67 more citing papers are in PubMed but not listed here.
Corrections and comments
- Erratum issued
Authors and funding
10 authors at 1 institution in 1 country.
Funding
Abstract
In the present study, DNA from 28 pediatric low-grade astrocytomas was analyzed using Illumina HumanHap550K single-nucleotide polymorphism oligonucleotide arrays. A novel duplication in chromosome band 7q34 was identified in 17 of 22 juvenile pilocytic astrocytomas and three of six fibrillary astrocytomas. The 7q34 duplication spans 2.6 Mb of genomic sequence and contains approximately 20 genes, including two candidate tumor genes, HIPK2 and BRAF. There were no abnormalities in HIPK2, and analysis of two mutation hot-spots in BRAF revealed a V600E mutation in only one tumor without the duplication. Fluorescence in situ hybridization confirmed the 7q34 copy number change and was suggestive of a tandem duplication. Reverse transcription polymerase chain reaction-based sequencing revealed a fusion product between KIAA1549 and BRAF. The predicted fusion product includes the BRAF kinase domain and lacks the auto-inhibitory N-terminus. Western blot analysis revealed phosphorylated mitogen-activated protein kinase (MAPK) protein in tumors with the duplication, consistent with BRAF-induced activation of the pathway. Further studies are required to determine the role of this fusion gene in downstream MAPK signaling and its role in development of pediatric low-grade astrocytomas.
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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.