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Genomic Characterization of Pediatric Low-Grade Gliomas

ABSTRACT:

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.

PROVIDER: phs001054 | dbGaP |

SECONDARY ACCESSION(S): PRJNA307133PRJNA307134

REPOSITORIES: dbGaP

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Dataset's files

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			Action	DRS
	GapExchange_phs001054.v1.p1.xml	Xml
	dbGaPEx2.1.5.xsd	Other
	Study_Report.phs001054.AngiocentricGlioma.v1.p1.MULTI.pdf	Pdf
	manifest_phs001054.AngiocentricGlioma.v1.p1.c1.GRU.pdf	Pdf
	manifest_phs001054.AngiocentricGlioma.v1.p1.c2.DS-NTT.pdf	Pdf

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