Pineoblastoma, MYC/FOXR2-Activated

Preferred Label : Pineoblastoma, MYC/FOXR2-Activated;

NCIt synonyms : Pineoblastoma-MYC; Pineoblastoma-MYC/FOXR2; PB, MYC/FOXR2-Activated; PB, MYC-Altered; PB, MYC/FOXR2-Altered; PB-MYC; PB-MYC/FOXR2; Pineoblastoma, MYC/FOXR2-Altered; Pineoblastoma, MYC-Altered;

NCIt definition : Pineoblastoma characterized by MYC activation, chromosome 16 losses, and overexpression of FOXR2. It affects young children and is associated with a dismal prognosis.;

Neoplastic status : Malignant;

NCI Metathesaurus CUI : CL1921407;

Details

Origin ID

C201973;

UMLS CUI

C5907803;

Disease may have findings
- Aggressive Clinical Course [NCIt concept]
- Flexner-Wintersteiner Rosette Formation [NCIt concept]
- Hemorrhage [NCIt concept]
- High Mitotic Activity [NCIt concept]
- Homer Wright Rosette Formation [NCIt concept]
- Microcalcification [NCIt concept]
- Necrotic Change [NCIt concept]
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]
Has cytogenetic abnormalities
- Loss of Chromosome 16 [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Benign Cellular Infiltrate [NCIt concept]
- Indolent Clinical Course [NCIt concept]
- Pineocytomatous Rosette Formation [NCIt concept]
- Well-Circumscribed Lesion [NCIt concept]
disease_excludes_normal_tissue_origin
- Germinal Layer [NCIt concept]
disease_has_abnormal_cell
- Malignant Cell [NCIt concept]
- Malignant Neuroectodermal Cell [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Neuroepithelial Cell [NCIt concept]
- Neoplastic Neuroepithelial Cell and Neoplastic Perineural Cell [NCIt concept]
- Neoplastic Small Immature Neuroepithelial Cell [NCIt concept]
- Neoplastic Small Neuroepithelial Cell [NCIt concept]
disease_has_finding
- Aggressive Clinical Course [NCIt concept]
- Increased Cellularity Present [NCIt concept]
- Malignant Cellular Infiltrate [NCIt concept]
disease_has_grade
- Grade 4 [NCIt concept]
disease_has_molecular_abnormality
- FOXR2 Protein Overexpression [NCIt concept]
- MYC Gene Amplification [NCIt concept]
disease_has_normal_cell_origin
- Embryonic Cell [NCIt concept]
- Neuroepithelial Cell [NCIt concept]
- Neuron, Neuroepithelial Cell, and Supporting Cell of the Nervous System [NCIt concept]
- Pinealocyte [NCIt concept]
disease_has_normal_tissue_origin
- Embryonic Tissue [NCIt concept]
- Nerve Tissue, Neuroepithelial Tissue, and Nerve Sheaths [NCIt concept]
- Neuroepithelial Tissue [NCIt concept]
- Pineal Parenchyma [NCIt concept]
disease_has_primary_anatomic_site
- Brain [NCIt concept]
- Central Nervous System [NCIt concept]
- Pineal Gland [NCIt concept]
disease_mapped_to_gene
- MYC Gene [NCIt concept]
pathogenesis_of_disease_involves_gene
- MYC Gene [NCIt concept]
- MYC wt Allele [NCIt concept]

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