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)
- 2023-06-23 2023-06-23 - Chiara Middel
Copyright Holder
Adam Resnick, PhD, The Children's Hospital of Philadelphia, Perelman School of Medicine at the University of Pennsylvania, PA, USA
Uploaded on
23 juni 2023
DOI
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Creative Commons BY 4.0
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dbGaP phs001054 Genomic Characterization of Pediatric Low-Grade Gliomas
Subject ID and age 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
Subject ID and age 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.
C2348585 (UMLS CUI [1,2])
C0011008 (UMLS CUI [1,2])
C0543467 (UMLS CUI [1,3])
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