EWSR1‐PATZ1 gene fusion may define a new glioneuronal tumor entity

Adult Male 570 0303 health sciences DNA Copy Number Variations Brain Neoplasms Kruppel-Like Transcription Factors 610 [SDV.CAN]Life Sciences [q-bio]/Cancer Glioma DNA Methylation Neoplasms, Neuroepithelial Repressor Proteins 03 medical and health sciences [SDV.CAN] Life Sciences [q-bio]/Cancer Biomarkers, Tumor Humans Female Gene Fusion RNA-Binding Protein EWS Child In Situ Hybridization, Fluorescence Ganglioglioma
DOI: 10.1111/bpa.12619 Publication Date: 2018-04-21T14:09:14Z
ABSTRACT
We investigated the challenging diagnostic case of a ventricular cystic glioneuronal tumor with papillary features, by RNA sequencing using Illumina TruSight Fusion panel. did not retrieve SLC44A1-PRKCA fusion gene specific for tumor, but an EWSR1-PATZ1 transcript. RT-PCR followed Sanger confirmed fusion. It matched canonic EWSR1 oncogene, juxtaposing entire N-terminal transcriptional activation domain and C-terminal DNA binding transcription factor gene, PATZ1. PATZ1 protein belongs to BTB-ZF (broad-complex, tramtrack bric-à-brac -zinc finger) family. directly regulates Pou5f1 Nanog is essential maintaining stemness inhibiting neural differentiation. rare event in tumors: it was only reported six round cell sarcomas three gliomas exclusively molecular studies. The first glioma BRAFV600E negative ganglioglioma, second otherwise specified third, very recently reported, high grade glioma, specified. In our study, forty gangliogliomas were screened FISH break-apart probes. performed methylation profiling index seven out ten positive cases. clustered apart from other pediatric low entities, specifically well-defined ganglioglioma group. An additional intraventricular slightly more closely showed differences main group similarities case. Both cases harbored copy number variations at locus. might define new type tumors, distinct gangliogliomas.
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