SMARCB1-Deficient Sinonasal Carcinoma

Preferred Label : SMARCB1-Deficient Sinonasal Carcinoma;

NCIt synonyms : Sinonasal SMARCB1-Deficient Carcinoma;

NCIt definition : An SWI/SNF-deficient sinonasal carcinoma characterized by biallelic deletion or inactivating mutation of SMARCB1 gene. It usually affects the paranasal sinuses, especially ethmoid. It is composed of a monomorphic malignant epithelial cellular population with a predominantly basaloid or plasmacytoid/rhabdoid morphology.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1920827;

Details

Origin ID

C201635;

UMLS CUI

C5908146;

Disease excludes abnormal cell
- Malignant Stromal Cell [NCIt concept]
- Neoplastic Smooth Muscle Cell [NCIt concept]
Has associated anatomic sites
- Head and Neck [NCIt concept]
- Sinonasal Tract [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Malignant Epithelial Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Epithelial Cell [NCIt concept]
disease_has_finding
- Aggressive Clinical Course [NCIt concept]
- Carcinomatous Component Present [NCIt concept]
- Epithelial Component Present [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- SWI/SNF Complex Deficiency [NCIt concept]
disease_has_normal_cell_origin
- Epithelial Cell [NCIt concept]
disease_has_normal_tissue_origin
- Epithelial Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Head and Neck [NCIt concept]
- Sinonasal Tract [NCIt concept]
disease_mapped_to_gene
- SMARCB1 Gene [NCIt concept]
disease_may_have_molecular_abnormality
- SMARCB1 Gene Deletion [NCIt concept]
- SMARCB1 Gene Inactivation [NCIt concept]
pathogenesis_of_disease_involves_gene
- SMARCB1 Gene [NCIt concept]
- SMARCB1 wt Allele [NCIt concept]

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