23. Optical genome mapping reveals new insights into ZFTA fusion in supratentorial ependymomas

Supratentorial ependymoma, ZFTA fusion positive, is a subtype of ependyoma with a ZFTA (C11orf95) fusion, most often involving RELA as the partner. ZFTA rearrangements were initially reported to result from intrachromosomal deletions or chromothripsis in chromosome 11 which are typically detected by chromosomal microarray analysis (CMA). We use CMA, our OncoKids NGS panel, and whole transcriptome RNA-seq to identify ZFTA fusions in pediatric brain tumors. For several tumors with ZFTA fusions detected by RNA-seq, complex copy number alterations involving chromosome 11 were not detected by CMA.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research