Childhood Central Nervous System Neuroblastoma, FOXR2-Activated

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

NCIt synonyms : Childhood Central Nervous System Neuroblastoma; Childhood Brain Neuroblastoma, FOXR2-Activated; Childhood Brain Neuroblastoma;

NCIt related terms : Central Nervous System Neuroblastoma;

NCIt definition : A rare central nervous system neoplasm with neuroblastic and/or neuronal differentiation that arises from the supratentorial brain and occurs during childhood. 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;

Details

Origin ID

C114775;

UMLS CUI

C3887519;

Disease excludes abnormal cell
- Neoplastic Ganglion Cell [NCIt concept]
Disease may have findings
- Hemorrhage [NCIt concept]
Excludes anatomical site(s)
- Spinal Cord [NCIt concept]
Has associated anatomic sites
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Cerebral Hemisphere [NCIt concept]
- Nervous System [NCIt concept]
- Supratentorial Brain [NCIt concept]
Has cytogenetic abnormalities
- FOXR2 Gene Rearrangement [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
Validated automatic mappings to NTBT
- Central nervous system neuroblastoma [MedDRA Preferred Term]
- Neuroblastoma of central nervous system (disorder) [SNOMED CT concept]
concept_is_in_subset
- CTRP Disease Terminology [NCIt concept]
- CTRP Terminology [NCIt concept]
- NICHD Terminology [NCIt concept]
- Pediatric Hematology-Oncology Terminology [NCIt concept]
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
- Childhood Lesion [NCIt concept]
- 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
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Cerebral Hemisphere [NCIt concept]
- Nervous System [NCIt concept]
disease_mapped_to_gene
- FOXR2 Gene [NCIt concept]
disease_may_have_cytogenetic_abnormality
- Gain of Chromosome 17q [NCIt concept]
- Loss of Chromosome 11q ATM Gene Locus [NCIt concept]
- Loss of Chromosome 1p [NCIt concept]
disease_may_have_molecular_abnormality
- NMYC Gene Amplification [NCIt concept]

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