Round Cell Sarcoma with EWSR1-PATZ1 Gene Fusion

Preferred Label : Round Cell Sarcoma with EWSR1-PATZ1 Gene Fusion;

NCIt synonyms : EWSR1-PATZ1 Sarcoma; EWSR1::PATZ1 Sarcoma; Round Cell Sarcoma with EWSR1::PATZ1 Gene Fusion;

NCIt definition : A group of rare round and spindle cell sarcomas characterized by the presence of EWSR1-PATZ1 gene fusion.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1648131;

Détails

Origin ID

C178461;

UMLS CUI

C5555053;

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]
Has cytogenetic abnormalities
- EWSR1 Gene Rearrangement [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_cytogenetic_abnormality
- t(11;22)(q24;q12) [NCIt concept]
- t(16;21)(p11;q22) [NCIt concept]
- t(17;22)(q21;q12) [NCIt concept]
- t(1;22)(p36.1;q12) [NCIt concept]
- t(21;22)(q22;q12) [NCIt concept]
- t(2;22)(q33;q12) [NCIt concept]
- t(7;22)(p22;q12) [NCIt 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_molecular_abnormality
- EWSR1-ERG Fusion Protein Expression [NCIt concept]
- EWSR1-ETV1 Fusion Protein Expression [NCIt concept]
- EWSR1-ETV4 Fusion Protein Expression [NCIt concept]
- EWSR1-FEV Fusion Protein Expression [NCIt concept]
- EWSR1-FLI1 Fusion Protein Expression [NCIt concept]
- FUS-ERG Fusion Protein Expression [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
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_molecular_abnormality
- EWSR1-PATZ1 Fusion Protein Expression [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
- EWSR1/PATZ1 Fusion Gene [NCIt concept]
disease_may_have_abnormal_cell
- Malignant Mesenchymal Spindle Cell [NCIt concept]
pathogenesis_of_disease_involves_gene
- EWSR1/PATZ1 Fusion Gene [NCIt concept]
- EWSR1/PATZ1 Fusion Gene Long A Isoform [NCIt concept]
- EWSR1/PATZ1 Fusion Gene Long B Isoform [NCIt concept]
- EWSR1/PATZ1 Fusion Gene Short Isoform [NCIt concept]

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