Sarcoma with BCOR Genetic Alterations

Preferred Label : Sarcoma with BCOR Genetic Alterations;

NCIt definition : A group of rare primitive round cell sarcomas characterized by the presence of BCOR genetic alterations. This category includes sarcomas with BCOR-related gene fusions, most frequently BCOR-CCNB3, and sarcomas showing internal tandem duplication (BCOR-ITD).;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1648105;

Détails

Origin ID

C178465;

UMLS CUI

C5555057;

Disease excludes abnormal cell
- Malignant Epithelial Cell [NCIt concept]
Disease excludes normal cell origin
- Epithelial Cell [NCIt concept]
Has associated anatomic sites
- Connective and Soft Tissue [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Sarcoma with BCOR genetic alterations (morphologic abnormality) [SNOMED CT concept]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Indolent Clinical Course [NCIt concept]
- Intermediate Filaments Present [NCIt concept]
- Intracytoplasmic Eosinophilic Inclusion [NCIt concept]
disease_excludes_normal_tissue_origin
- Epithelial Tissue [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Malignant Small Cell [NCIt concept]
- Malignant Small Round Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
disease_has_finding
- BCOR Genetic Alteration [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Connective and Soft Tissue [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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