Preferred Label : Pediatric Glioma RTK1 Molecular Signature Detected;
NCIt synonyms : pedGBM_RTK1 Signature Detected;
NCIt definition : An indication that the RTK1-type molecular signature for pediatric high grade glioma
was detected in a sample. This signature occurs more frequently in supratentorial
than infratentorial gliomas and co-occurs with expression of both wild-type histone
H3 and wild-type IDH. The RTK1-type molecular signature is characterized by the following
molecular abnormalities (in order of most to least frequent) TP53 gene mutation, PDGFRA
gene amplification, homozygous deletion of chromosome 9p, MGMT promoter methylation
and loss of ATRX protein expression. This signature may rarely include gain of chromosome
7, loss of chromosome 10q, CDK4/6 mutations and MYCN gene amplification. Additionally,
EGFR gene amplification and TERT promoter mutation are not characteristics of this
signature.;
NCI Metathesaurus CUI : CL1773677;
PubMed : 28401334;
Origin ID : C185487;
UMLS CUI : C5669934;
Semantic type(s)
- is_finding_of_disease
