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Abstract BACKGROUND Pediatric brain tumours (pBT) are molecularly diverse and with the advent of targeted-therapies it is important to decipher molecularly. METHODS Single institutional non-consecutive pBT (18 years) cohort include – a. high-grade glial tumour (HGG; H3-wildtype, IDH1/2-wildtype, immunohistochemically MMR-protein-proficient, negative for NTRK/ALK-rearrangements by FISH in 3 years), b. high-grade CNS neuroepithelial tumour, NOS (cNET), c 3 years (supratentorial ST: 3; posterior-3rd-ventricular p3v: 1 PF location) showed EGFR-gains with TERT-promoter (C228T) mutation (like adult-type glioma), one showed NF1-exon 12 mutation with KIAA1549-RAD51 (18:4) fusion, one showed CDKN2A-exon 2 mutation and one (midbrain) case showed BRAFV600E-mutation. e. LGG-DLGG: one (11/M, occipital-SOL) showed KEAP1-exon 5 mutation with KIAA1549- BRAF (15:9) fusion. CONCLUSIONS TP53-mutations is common in HGG, infantile HGG can show non-ALK/NTRK fusions. LGG can show non-BRAF/KIAA1549-fusions, rarely can show KEAP1 mutations and adult-type-like alterations. Target-panel NGS-based assay can help to molecularly decipher to a certain extent, especially for instituting targeted-therapies.
Epari et al. (Tue,) studied this question.