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C185486Level 7

Pediatric Glioma MYCN Molecular Signature Detected

**Semantic type:** Laboratory or Test Result

**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.

**Synonyms:** - pedGBM_MYCN Signature Detected

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