ArticleCancer genetics2014
Diagnostic application of high resolution single nucleotide polymorphism array analysis for children with brain tumors.
Article in Cancer genetics, 2014. 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, 43 citations in OpenAlex.
- The multifaceted role of quaking protein in neuropsychiatric disorders and tumor progression.Frontiers in neuroscience · 2024Review
- Genetic predictors of neurocognitive outcomes in survivors of pediatric brain tumors.Journal of neuro-oncology · 2023Article
- Article
- MYB/MYBL1::QKI fusion-positive diffuse glioma.Journal of neuropathology and experimental neurology · 2023Review
- A molecular study of pediatric pilomyxoid and pilocytic astrocytomas: Genome-wide copy number screening, retrospective analysis of clinicopathological features and long-term clinical outcome.Frontiers in oncology · 2023Article
- Low-grade epilepsy-associated neuroepithelial tumors: Tumor spectrum and diagnosis based on genetic alterations.Frontiers in neuroscience · 2022Review
- Chromosomal microarray analysis, including constitutional and neoplastic disease applications, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Polymorphous Low-Grade Neuroepithelial Tumor of the Young (PLNTY): Molecular Profiling Confirms Frequent MAPK Pathway Activation.Journal of neuropathology and experimental neurology · 2021Article
- Discovery of a rareCancer biology & therapy · 2021Article
- Genetic Association of Epilepsy and Anti-Epileptic Drugs Treatment in Jordanian Patients.Pharmacogenomics and personalized medicine · 2020Article
- Targeted fusion analysis can aid in the classification and treatment of pediatric glioma, ependymoma, and glioneuronal tumors.Pediatric blood & cancer · 2020Article
- Article
- Technical laboratory standards for interpretation and reporting of acquired copy-number abnormalities and copy-neutral loss of heterozygosity in neoplastic disorders: a joint consensus recommendation from the American College of Medical Genetics and Genomics (ACMG) and the Cancer Genomics Consortium (CGC).Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Frequency of BRAF V600E mutations in 969 central nervous system neoplasms.Diagnostic pathology · 2016Article
- Genetic alterations in uncommon low-grade neuroepithelial tumors: BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology.Acta neuropathologica · 2016Article
- NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.Human molecular genetics · 2016Article
- 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
- Review of low-grade gliomas in children--evolving molecular era and therapeutic insights.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2015Review
- Chromosome band 7q34 deletions resulting in KIAA1549-BRAF and FAM131B-BRAF fusions in pediatric low-grade Gliomas.Brain pathology (Zurich, Switzerland) · 2015Article
- Clinical utility of comprehensive genomic profiling in central nervous system tumors of children and young adults.Neuro-oncology advancesArticle
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
Abstract
Single nucleotide polymorphism (SNP) array analysis is currently used as a first tier test for pediatric brain tumors at The Children's Hospital of Philadelphia. The results from 100 consecutive patients are summarized in the present report. Eighty-seven percent of the tumors had at least one pathogenic copy number alteration. Nineteen of 56 low grade gliomas (LGGs) demonstrated a duplication in 7q34, which resulted in a KIAA1549-BRAF fusion. Chromosome band 7q34 deletions, which resulted in a FAM131B-BRAF fusion, were identified in one pilocytic astrocytoma (PA) and one dysembryoplastic neuroepithelial tumor (DNT). One ganglioglioma (GG) demonstrated a 6q23.3q26 deletion that was predicted to result in a MYB-QKI fusion. Gains of chromosomes 5, 6, 7, 11, and 20 were seen in a subset of LGGs. Monosomy 6, deletion of 9q and 10q, and an i(17)(q10) were each detected in the medulloblastomas (MBs). Deletions and regions of loss of heterozygosity that encompassed TP53, RB1, CDKN2A/B, CHEK2, NF1, and NF2 were identified in a variety of tumors, which led to a recommendation for germline testing. A BRAF p.Thr599dup or p.V600E mutation was identified by Sanger sequencing in one and five gliomas, respectively, and a somatic TP53 mutation was identified in a fibrillary astrocytoma. No TP53 hot-spot mutations were detected in the MBs. SNP array analysis of pediatric brain tumors can be combined with pathologic examination and molecular analyses to further refine diagnoses, offer more accurate prognostic assessments, and identify patients who should be referred for cancer risk assessment.
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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.