BCOR ITD Sarcoma

Preferred Label : BCOR ITD Sarcoma;

NCIt synonyms : Sarcoma with BCOR Internal Tandem Duplication; Round Cell Sarcoma with BCOR Internal Tandem Duplication; BCOR-ITD Sarcoma;

NCIt definition : A group of rare primitive round cell sarcomas characterized by the presence of BCOR internal tandem duplication. This genetic alteration has been described in infantile undifferentiated round cell sarcomas and primitive myxoid mesenchymal tumors of infancy.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1648108;

Details

Origin ID

C178468;

UMLS CUI

C5555060;

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]
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_molecular_abnormality
- BCOR Final Exon Internal Tandem Duplication [NCIt concept]
disease_has_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_mapped_to_gene
- BCOR Gene [NCIt concept]

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