CIC-DUX4 Sarcoma

Preferred Label : CIC-DUX4 Sarcoma;

NCIt synonyms : CIC::DUX4 Sarcoma;

NCIt definition : An undifferentiated, high grade small round cell sarcoma affecting predominantly young adults. It is characterized by a recurrent translocation involving the CIC gene on chromosome 19 and DUX4 gene on chromosome 4. The translocation results in CIC-DUX4, t(4;19)(q35;q13) fusions.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL978938;

Détails

Origin ID

C165663;

UMLS CUI

C5237353;

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
- CIC Gene Rearrangement [NCIt concept]
- t(4;19)(q35;q13) [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
disease_excludes_cytogenetic_abnormality
- EWSR1 Gene Rearrangement [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_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
- High Grade Lesion [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_molecular_abnormality
- CIC-DUX4 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
- CIC Gene [NCIt concept]
- CIC/DUX4 Fusion Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- CIC/DUX4 Fusion Gene [NCIt concept]

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