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Genomic Characterization of Pediatric Low-Grade Gliomas
dbGaP
Data Resource:  dbGaP
Point of Contact:  
Adam Resnick, PhD,  
Project

About This Dataset
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.
Core Data Elements
Number of Cases
76
Case Sex
Not Reported (76)
Case Age At Diagnosis
0 to 4 years (21); 5 to 9 years (18); 10 to 14 years (15); 15 to 19 years (10); 20 to 24 years (4); Pediatric and Young Adult (<40 years) (8)
Case Race
Not Reported (76)
Case Ethnicity
Not Reported (76)
Case Disease Diagnosis
Pediatric Low-Grade Gliomas (76)
Number of Samples
93
Sample Assay Method
Chromatin DNA Sequencing (9); RNA Sequencing (10); Whole Exome Sequencing (40); Whole Genome Sequencing (34)
Sample Anatomic Site
Blood (18); Brain (73); Not Reported (2)
Additional Data Elements
DBGAP STUDY IDENTIFIER
GEO STUDY IDENTIFIER
Grant Information
R01NS085336
Pediatric low-grade gliomas: biology and molecular targeting.
Published In
https://doi.org/10.1038/ng.3500
Charts
Not Reported (76)
76Not Reported