Desmoplastic Myxoid Tumor of the Pineal Region, SMARCB1-Mutant

Preferred Label : Desmoplastic Myxoid Tumor of the Pineal Region, SMARCB1-Mutant;

NCIt synonyms : Desmoplastic Myxoid Tumor, SMARCB1-Mutant;

NCIt definition : A SMARCB1-deficient tumor of the brain arising in the pineal region. It is characterized by the presence of spindled and epithelioid cells with low-grade morphology that are embedded in a desmoplastic stroma alternating with various extents of loose myxoid matrix.;

Neoplastic status : Undetermined;

NCI Metathesaurus CUI : CL1648038;

Details

Origin ID

C178507;

UMLS CUI

C5555093;

Excludes anatomical site(s)
- Spinal Cord [NCIt concept]
Has associated anatomic sites
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
- Pineal Gland [NCIt concept]
- Supratentorial Brain [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_has_abnormal_cell
- Neoplastic Cell [NCIt concept]
- Neoplastic Epithelioid Cell [NCIt concept]
- Neoplastic Spindle Cell [NCIt concept]
disease_has_finding
- Desmoplastic Stroma Formation [NCIt concept]
- Loss of INI 1 Protein Expression [NCIt concept]
- Low Grade Lesion [NCIt concept]
- Myxoid Changes Present [NCIt concept]
disease_has_molecular_abnormality
- SMARCB1 Gene Mutation [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
- Pineal Gland [NCIt concept]
disease_mapped_to_gene
- SMARCB1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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