Preferred Label : Pediatric Glioma RTK2 Molecular Signature Detected;
NCIt synonyms : pedGBM_RTK2 Signature Detected;
NCIt definition : An indication that the RTK2-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 RTK2-type molecular signature is characterized by the following
molecular abnormalities (in order of most to least frequent) homozygous deletion of
chromosome 9p, TERT promoter mutation, EGFR gene amplification, TP53 gene mutation,
loss of chromosome 10q, gain of chromosome 7 and CDK4/6 mutations. This signature
may rarely include MYCN gene amplification and PDGFRA gene amplification. Additionally,
MGMT promoter methylation and loss of ATRX protein expression are not characteristics
of this signature.;
NCI Metathesaurus CUI : CL1773682;
PubMed : 28401334;
Origin ID : C185488;
UMLS CUI : C5669935;
Semantic type(s)
- is_finding_of_disease
