학술논문
Molecular and clinicopathologic characteristics of gliomas with EP300::BCOR fusions.
Document Type
Article
Author
Wu, Zhichao; Rajan, Sharika; Chung, Hye-Jung; Raffeld, Mark; Panneer Selvam, Pavalan; Schweizer, Leonille; Perry, Arie; Samuel, David; Giannini, Caterina; Ragunathan, Aditya; Frosch, Matthew P.; Marshall, Michael S.; Boué, Daniel R.; Donev, Kliment; Neill, Stewart G.; Fernandes, Igor; Resnick, Adam; Rood, Brian; Cummings, Thomas J.; Buckley, Anne F.
Source
Subject
*GLIOMAS
*DNA copy number variations
*
Language
ISSN
0001-6322
Abstract
Tumor class was indicated at the bottom row. d Progression-free survival curve of patients with BCOR-fusion tumors In summary, we report 21 cases in a defined methylation class composed predominantly of BCOR-fusion-positive tumors. Recently, gene fusions involving I BCOR i and I EP300 i have been reported in several CNS tumors with DNA methylation profiles resembling BCOR-ITD or low-grade glioma with I MYB i alterations (LGG-MYB) [[5], [7]]. 1 DNA methylation and copy number variation of BCOR-altered tumors. a UMAP analysis of BCOR-altered tumors, LGG-MYB and HGNET-MN1. b Frequency of altered CNV segments in BCOR-fusion (up) and BCOR-ITD (bottom) tumors. In the case of CNS tumors, a subgroup has been identified with a distinct DNA methylation profile showing internal tandem duplication in exon 15 of the I BCOR i gene (BCOR-ITD) [[6]]. [Extracted from the article]