Diffuse Astrocytoma, MYBL1-Altered

Preferred Label : Diffuse Astrocytoma, MYBL1-Altered;

NCIt synonyms : Isomorphic Diffuse Glioma; Isomorphic Astrocytoma Variant;

NCIt definition : A rare IDH-and H3-wildtype diffuse astrocytoma characterized by the presence of a monomorphic population of neoplastic cells that exhibit alteration in the MYBL1 gene. This alteration is associated with fusion between MYBL1 gene and a partner gene, usually PCDHGA1, MMP16, and MAML2 genes.;

Neoplastic status : Undetermined;

NCI Metathesaurus CUI : CL1773414;

Details

Origin ID

C185196;

UMLS CUI

C5575349;

Disease may have findings
- Calcification [NCIt concept]
- Headache [NCIt concept]
- Motor Manifestations [NCIt concept]
- Seizure [NCIt concept]
- Sensory Manifestations [NCIt concept]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Grade 4 Lesion [NCIt concept]
- Microvascular Proliferation [NCIt concept]
- Mitotic Activity [NCIt concept]
- Necrotic Change [NCIt concept]
- Precise Histogenesis Unknown [NCIt concept]
disease_excludes_molecular_abnormality
- IDH Gene Family Mutation [NCIt concept]
disease_has_abnormal_cell
- Neoplastic Astrocyte [NCIt concept]
- Neoplastic Cell [NCIt concept]
- Neoplastic Glial Cell [NCIt concept]
- Neoplastic Neuroepithelial Cell [NCIt concept]
- Neoplastic Neuroepithelial Cell and Neoplastic Perineural Cell [NCIt concept]
disease_has_finding
- Diffuse Pattern [NCIt concept]
- Infiltrative Growth Pattern [NCIt concept]
- Low Grade Lesion [NCIt concept]
disease_has_grade
- Grade 2 [NCIt concept]
- Low Grade [NCIt concept]
disease_has_molecular_abnormality
- MYBL1 Gene Rearrangement [NCIt concept]
disease_has_normal_cell_origin
- Astrocyte [NCIt concept]
- Glial Cell [NCIt concept]
- Neuroepithelial Cell [NCIt concept]
- Neuron, Neuroepithelial Cell, and Supporting Cell of the Nervous System [NCIt concept]
disease_has_normal_tissue_origin
- Nerve Tissue, Neuroepithelial Tissue, and Nerve Sheaths [NCIt concept]
- Neuroepithelial Tissue [NCIt concept]
disease_has_primary_anatomic_site
- Central Nervous System [NCIt concept]
disease_mapped_to_gene
- MYBL1 Gene [NCIt concept]
disease_may_have_cytogenetic_abnormality
- Gain of Chromosome 7q [NCIt concept]
pathogenesis_of_disease_involves_gene
- MYBL1 Gene [NCIt concept]
- MYBL1 wt Allele [NCIt concept]

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