Alternative lengthening of telomeres (ALT) in pediatric high-grade gliomas can occur without ATRX mutation and is enriched in patients with pathogenic germline mismatch repair (MMR) variants.

We observe a positive correlation trending toward significance (Pearson’s R = 0.449, P = .0536) between somatic ATRX VAF and a higher TelomereHunter T/N telomere content ratio and this was not driven by tumor purity ( Supplementary Figure 3D ).

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Although there was a small trend toward higher ATRX variant allele frequencies (VAF) in ALT+ tumors (mean VAF = 0.64) compared to ALT− tumors (mean VAF = 0.51), we did not find significant differences in ATRX mutation clonality between the distributions (KS-test D = 0.35, P -value = .8339).

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