ArticleBrain pathology (Zurich, Switzerland)2015
Chromosome band 7q34 deletions resulting in KIAA1549-BRAF and FAM131B-BRAF fusions in pediatric low-grade Gliomas.
Article in Brain pathology (Zurich, Switzerland), 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 44 citations in OpenAlex.
- Pilocytic astrocytoma: The paradigmatic entity in low‑grade gliomas (Review).Oncology letters · 2024Review
- Polymorphous Low-Grade Neuroepithelial Tumor of the Young (PLNTY): Molecular Profiling Confirms Frequent MAPK Pathway Activation.Journal of neuropathology and experimental neurology · 2021Article
- Targeted therapy for pediatric low-grade glioma.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2021Article
- Analysis of LAGEs Family Gene Signature and Prognostic Relevance in Breast Cancer.Diagnostics (Basel, Switzerland) · 2021Article
- Molecularly Targeted Agents in the Therapy of Pediatric Brain Tumors.Paediatric drugs · 2020Review
- A glioneuronal tumor withNPJ genomic medicine · 2020Article
- Pilocytic astrocytomas: BRAFV600E and BRAF fusion expression patterns in pediatric and adult age groups.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2019Article
- Review
- Recent Advancement of the Molecular Diagnosis in Pediatric Brain Tumor.Journal of Korean Neurosurgical Society · 2018Review
- Genome sequencing identifies somaticCold Spring Harbor molecular case studies · 2018Article
- A low-grade astrocytoma in a sixteen-year-old boy with a 7q11.22 deletion.Clinical case reports · 2018Article
- Molecular Testing of Brain Tumor.Journal of pathology and translational medicine · 2017Review
- BRAF-V600E immunohistochemistry in a large series of glial and glial-neuronal tumors.Brain and behavior · 2017Article
- Article
- Whole Chromosome 7 Gain Predicts Higher Risk of Recurrence in Pediatric Pilocytic Astrocytomas Independently From KIAA1549-BRAF Fusion Status.Journal of neuropathology and experimental neurology · 2016Article
- Activation loop phosphorylation regulates B-Raf in vivo and transformation by B-Raf mutants.The EMBO journal · 2016Article
- KIAA1549: BRAF Gene Fusion and FGFR1 Hotspot Mutations Are Prognostic Factors in Pilocytic Astrocytomas.Journal of neuropathology and experimental neurology · 2015Article
- The evolving molecular genetics of low-grade glioma.Advances in anatomic pathology · 2015Review
- Interstitial Deletions Generating Fusion Genes.Cancer genomics & proteomicsReview
- A Comprehensive Method for Detecting Fusion Genes in Paediatric Brain Tumours.Cancer genomics & proteomicsArticle
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
Abstract
The majority of pediatric low-grade gliomas (LGGs) are characterized by constitutive activation of the mitogen-activated protein kinase (MAPK) pathway through various mechanisms including BRAF mutations, inactivation of NF1, and KIAA1549-BRAF and FAM131B-BRAF fusions. The KIAA1549-BRAF fusion typically results from a 2.0 Mb tandem duplication in chromosome band 7q34. In the present study, single nucleotide polymorphism (SNP)-based array analysis of three LGGs demonstrated deletions in 7q34 that resulted in a BRAF fusion. Case 1 was likely a pilocytic astrocytoma (PA) with three deletions in 7q33q34 and an exon 15-9 KIAA1549-BRAF fusion. SNP array analysis of case 2, a possible dysembryoplastic neuroepithelial tumor (DNT), revealed a 2.6 Mb deletion, which included the 5' end of BRAF and extended to the 3' end of FAM131B. In case 3, deletions involving BRAF and FAM131B were observed in both a primary and a recurrent PA. RNA-based sequence analysis of cases 2 and 3 confirmed a fusion between FAM131B exon 2 and BRAF exon 9. The presence of fusion transcripts in these three LGGs highlights the utility of SNP array analysis to identify deletions that are suggestive of fusion proteins. BRAF fusions can result from multiple non-overlapping deletions, suggesting various complex mechanisms of formation.
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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.