Table 1.
Ultramutated HGG cases
| Patient ID | Age, y, at Diagnosis | % Genome Altered | Total Mutation Count | Somatic POLE Mutation | Germline MSH6 Mutation |
|---|---|---|---|---|---|
| GBM-60001 | 42 | 6.09 | 10 020 | V411L | V379A, homozygous |
| GBM-60003 | 8 | 0.55 | 4918 | S297F | Q160*, homozygous |
| GBM-60004 | 2 | 0.01 | 4813 | S459F | Q160*, homozygous |
| GBM-10468 | 42 | 0.34 | 6174 | P286R | WT |
| TCGA-05-5416 | 23 | 3.3 | 14 074 | V411L | WT |
| TCGA-DU-6392 | 35 | 13.1 | 15 545 | S297Y | WT |
Abbreviation: WT, wild-type for deleterious mutation. Overall, POLE exonuclease domain mutant HGGs are observed in younger patients and somatically reveal genomic stability but significantly increased number of coding mutations.