central nervous system tumor with BCOR internal tandem duplication

Term ID

DOID:0081315

Synonyms

• CNS tumour with BCOR internal tandem duplication

Definition

A central nervous system embryonal tumor that is characterized by the presence of uniform oval or spindle-shaped cells with round or oval nuclei, pseudorosette formation, and heterozygous internal tandem duplication in exon 15 of the BCOR gene. https://pubmed.ncbi.nlm.nih.gov/35809497/

References

• ICDO:9500/3
• NCI:C186556

Ontology

Human Disease   ( DOID:0081315 )