Central Nervous System Neuroblastoma, FOXR2-Activated

Preferred Label : Central Nervous System Neuroblastoma, FOXR2-Activated;

NCIt synonyms : CNS Neuroblastoma, FOXR2-Activated;

NCIt definition : A rare central nervous system neoplasm with neuroblastic and/or neuronal differentiation. It is characterized by the presence of structural rearrangements of FOXR2 gene that result in the activation of the transcription factor FOXR2.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1778813;

Details

Origin ID

C186547;

UMLS CUI

C5670625;

Disease excludes abnormal cell
- Neoplastic Ganglion Cell [NCIt concept]
Disease may have findings
- Hemorrhage [NCIt concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Has cytogenetic abnormalities
- FOXR2 Gene Rearrangement [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Indolent Clinical Course [NCIt concept]
- Prominent Schwannian Stroma Present [NCIt concept]
disease_excludes_normal_tissue_origin
- Germinal Layer [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Neuroblast [NCIt concept]
- Neoplastic Neuroepithelial Cell [NCIt concept]
- Neoplastic Neuroepithelial Cell and Neoplastic Perineural Cell [NCIt concept]
disease_has_finding
- Increased Cellularity Present [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
- Neuroectodermal Differentiation [NCIt concept]
disease_has_molecular_abnormality
- FOXR2 Protein Overexpression [NCIt concept]
disease_has_normal_cell_origin
- Embryonic Cell [NCIt concept]
- Neuroblast [NCIt concept]
- Neuroectodermal Cell [NCIt concept]
- Neuroepithelial Cell [NCIt concept]
- Neuron, Neuroepithelial Cell, and Supporting Cell of the Nervous System [NCIt concept]
disease_has_normal_tissue_origin
- Embryonic Tissue [NCIt concept]
- Nerve Tissue, Neuroepithelial Tissue, and Nerve Sheaths [NCIt concept]
- Neuroectoderm [NCIt concept]
- Neuroepithelial Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- FOXR2 Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- FOXR2 Gene [NCIt concept]
- FOXR2 wt Allele [NCIt concept]

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