Central Nervous System Tumor with BCOR Internal Tandem Duplication

Preferred Label : Central Nervous System Tumor with BCOR Internal Tandem Duplication;

NCIt synonyms : CNS Tumor with BCOR Internal Tandem Duplication;

NCIt definition : A rare central nervous system embryonal tumor 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.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1778819;

Details

Origin ID

C186556;

UMLS CUI

C5670630;

Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Indolent Clinical Course [NCIt concept]
disease_excludes_normal_tissue_origin
- Germinal Layer [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Malignant Neuroectodermal Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
disease_has_finding
- Malignant Cellular Infiltrate [NCIt concept]
- Pseudorosette Formation [NCIt concept]
disease_has_grade
- Grade 4 [NCIt concept]
disease_has_molecular_abnormality
- BCOR Final Exon Internal Tandem Duplication [NCIt concept]
disease_has_normal_cell_origin
- Embryonic Cell [NCIt concept]
disease_has_normal_tissue_origin
- Embryonic Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
disease_mapped_to_gene
- BCOR Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- BCOR Gene [NCIt concept]
- BCOR wt Allele [NCIt concept]

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