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. 2019 Jul 4;21(12):1498–1508. doi: 10.1093/neuonc/noz119

Table 1.

Molecular testing for the accurate diagnosis and subclassification of brain tumors*

Glioma Embryonal Tumors Other Tumors
• 1p/19q codeletion1
 ATRX mutation4
 BRAF fusion4
 BRAF mutations2
 CDK4 amplification4
 CDKN2A deletion2
• Chromosome 10 monosomy2
• Chromosome 7 gain2
 EGFR amplification2
 EGFR mutation4
 FGFR1 gain2
 FGFR1 mutation2
 FGFR3 fusions3
 H3F3A mutations1
 IDH1 and IDH2 mutation1
• Methylation profiling4
 MGMT promoter methylation3
 MYB or MYBL1 rearrangement2
 NOTCH1 mutation4
 RB mutation or deletion4
 RELA fusion1
 TERT promoter mutation2
 TP53 mutation4
 APC mutation1
 BRG1 mutation1
• C19MC amplification1
 CTNNB1 mutation1
• GAB1 expression1
 INI1 mutation1
• Methylation profiling4
• Monosomy 64
 MYC amplification4
 MYCN amplification4
• SHH activation1
 TP53 mutation1
 WNT activation1
• YAP1 expression1
• β-catenin expression and localization1
Craniopharyngioma
• BRAF V600E mutation4
 CTNNB1 mutation4
• β-catenin nuclear expression4
Meningioma
 BAP1 mutation or deletion4
• Methylation profiling4
 TERT promoter mutation4

*Each molecular marker and/or test is denoted by the main source recommending its use: 1WHO 2016 classification scheme; 2cIMPACT-NOW updates; 3treatment stratification; 4proposed with good evidence in the literature.