ID
45807
Description
Principal Investigator: Adam Resnick, PhD, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, PA, USA MeSH: Glioma,Astrocytoma https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001054 Pediatric low-grade gliomas (PLGGs) are the most common pediatric brain-tumor, with more than ten histologic subtypes recognized by the World Health Organization. We performed a genomic analysis of 230 PLGGs of which 73 had whole genome/RNA sequencing performed and show that MYB-QKI fusions define the seizure associated tumor, Angiocentric Glioma (AG). MYB-QKI fusions present in AGs contribute to tumorigenesis through three mechanisms: MYB activation by truncation, enhancer translocation driving aberrant MYB-QKI expression, and hemizygous loss of QKI, a tumor suppressor gene. Such interplay between three oncogenic mechanisms has diagnostic and therapeutic implications in AGs, and illustrates the functional complexity associated with rearrangements in cancer.
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Versions (1)
- 23/06/2023 23/06/2023 - Chiara Middel
Détendeur de droits
Adam Resnick, PhD, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, PA, USA
Téléchargé le
23 juin 2023
DOI
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Licence
Creative Commons BY 4.0
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dbGaP phs001054 Genomic Characterization of Pediatric Low-Grade Gliomas
Sample ID, analyte type, tumor status of sample, histological type, whether the sample is recurrent tumor, and body site where sample was collected of participants with pediatric low-grade gliomas and involved in the "Genomic Characterization of Pediatric Low-Grade Gliomas" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants with pediatric low-grade gliomas and involved in the "Genomic Characterization of Pediatric Low-Grade Gliomas" project.
- Subject ID, sample ID, and sample use variable obtained from participants with pediatric low-grade gliomas and involved in the "Genomic Characterization of Pediatric Low-Grade Gliomas" project.
- Subject ID and age of participants with pediatric low-grade gliomas and involved in the "Genomic Characterization of Pediatric Low-Grade Gliomas" project.
- Sample ID, analyte type, tumor status of sample, histological type, whether the sample is recurrent tumor, and body site where sample was collected of participants with pediatric low-grade gliomas and involved in the "Genomic Characterization of Pediatric Low-Grade Gliomas" project.
Similar models
Sample ID, analyte type, tumor status of sample, histological type, whether the sample is recurrent tumor, and body site where sample was collected of participants with pediatric low-grade gliomas and involved in the "Genomic Characterization of Pediatric Low-Grade Gliomas" project.
- StudyEvent: SEV1
- Eligibility Criteria
- Subject ID and consent group of participants with pediatric low-grade gliomas and involved in the "Genomic Characterization of Pediatric Low-Grade Gliomas" project.
- Subject ID, sample ID, and sample use variable obtained from participants with pediatric low-grade gliomas and involved in the "Genomic Characterization of Pediatric Low-Grade Gliomas" project.
- Subject ID and age of participants with pediatric low-grade gliomas and involved in the "Genomic Characterization of Pediatric Low-Grade Gliomas" project.
- Sample ID, analyte type, tumor status of sample, histological type, whether the sample is recurrent tumor, and body site where sample was collected of participants with pediatric low-grade gliomas and involved in the "Genomic Characterization of Pediatric Low-Grade Gliomas" project.
C1299222 (UMLS CUI [1,2])
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C0007634 (UMLS CUI [2,2])
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C1292533 (UMLS CUI [4,1])
C0449560 (UMLS CUI [4,2])
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C1512698 (UMLS CUI [1,3])