CIC-Rearranged Sarcoma

Preferred Label : CIC-Rearranged Sarcoma;

NCIt synonyms : CIC-DUX 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 either DUX4 gene on chromosome 4 or DUX4L gene on chromosome 10. The translocation results in either CIC-DUX4, t(4;19)(q35;q13) or CIC-DUX4L, t(10;19)(q26;q13) fusions.;

Neoplastic status : Malignant;

Details

Origin ID

C120224;

UMLS CUI

C3899764;

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]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- CIC-rearranged sarcoma (morphologic abnormality) [SNOMED CT 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_normal_tissue_origin
- Connective and Soft Tissue [NCIt concept]
disease_mapped_to_gene
- CIC Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- CIC Gene [NCIt concept]
- CIC wt Allele [NCIt concept]
- DUX4 Gene [NCIt concept]
- DUX4 wt Allele [NCIt concept]

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