Preferred Label : Pediatric Glioma MYCN Molecular Signature Detected;
NCIt synonyms : pedGBM_MYCN Signature Detected;
NCIt definition : An indication that the MYCN-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 MYCN-type molecular signature is characterized by the following
molecular abnormalities (in order of most to least frequent) TP53 gene mutations,
MYCN gene amplification, gain of chromosome 7, loss of chromosome 10q, TERT promoter
mutation, EGFR gene amplification and CDK4/6 mutations. This signature may rarely
include MGMT promoter methylation, homozygous deletion of chromosome 9p. PDGFRA gene
amplification and loss of ATRX protein expression.;
NCI Metathesaurus CUI : CL1773676;
PubMed : 28401334;
Origin ID : C185486;
UMLS CUI : C5669933;
Semantic type(s)
- is_finding_of_disease
