Pediatric Glioma RTK1 Molecular Signature Detected

**Semantic type:** Laboratory or Test Result

**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.

**Synonyms:** - pedGBM_RTK1 Signature Detected