Diffuse Low Grade Glioma, MAPK Pathway-Altered

Preferred Label : Diffuse Low Grade Glioma, MAPK Pathway-Altered;

NCIt synonyms : Diffuse Low-Grade Glioma, MAPK Pathway-Altered;

NCIt definition : A rare, low-grade diffuse glioma with morphological features of astrocytoma or oligodendroglioma, generally affecting children. It is characterized by a gene alteration that results in a MAPK pathway abnormality. The genetic abnormalities are typically a BRAF p.V600E substitution mutation, mutations or fusions involving the FGFR1 gene and internal tandem duplication (ITD) of the sequences of FGFR1 gene encoding the tyrosine kinase domain (TKD). The tumor is IDH-wildtype and does not have a homozygous deletion of CDKN2A gene.;

Neoplastic status : Undetermined;

NCI Metathesaurus CUI : CL1773448;

Details

Origin ID

C185218;

UMLS CUI

C5669769;

Automatic exact mappings (from CISMeF team)
- Diffuse low-grade glioma, MAPK pathway-altered [ICD-11 Extension code]
Has associated anatomic sites
- Central Nervous System [NCIt concept]
- Nervous System [NCIt concept]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
disease_excludes_finding
- Precise Histogenesis Unknown [NCIt concept]
disease_excludes_molecular_abnormality
- Homozygous CDKN2A Gene Deletion [NCIt concept]
- IDH Gene Family Mutation [NCIt concept]
disease_has_abnormal_cell
- 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]
- MAPK Pathway Alteration Positive [NCIt concept]
disease_has_grade
- Low Grade [NCIt concept]
disease_has_normal_cell_origin
- 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_may_have_abnormal_cell
- Neoplastic Astrocyte [NCIt concept]
- Neoplastic Oligodendrocyte [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients