Table 1.
Summary of Acquired and Germline Alterations in Adult Gliomas.*
Alteration Type | Triple-Positive | TERT and IDH Mutation | IDH Mutation Only | Triple-Negative | TERT Mutation Only |
---|---|---|---|---|---|
Grouping alterations | IDH, 1p/19q, and TERT | TERT and IDH | IDH | — | TERT |
Common acquired mutations | CIC, FUBP1, NOTCH1, and PIK3CA or PIK3R1 | TP53 and ATRX | TP53 and ATRX | EGFR, PTEN, and NF1 | EGFR, EGFRvIII, PTEN, NF1, RB1, and PIK3CA or PIK3R1 |
Common acquired copy-number alterations | Loss of chromosome 4, hemizygous loss of CDKN2A/B; “genomically quiet” | Gain of chromosome 7, duplication of 8q24 (MYC), homozygous loss of CDKN2A/B, deletion of PTEN | Duplication of 7q, duplication of 8q24 (MYC), hemizygous loss of CDKN2A/B, deletion of 19q (without deletion of 1p) | Similar to TERT mutation only (at lower prevalence) | Loss of chromosome 4, gain of chromosome 7, gain of chromosome 19, amplification of EGFR, homozygous loss of CDKN2A/B, deletion of PTEN, other amplifications |
TCGA glioblastoma expression subtype | Proneural | Mesenchymal, neural, proneural | Proneural | Classical, mesenchymal, neural, proneural | Classical, mesenchymal |
Germline SNPs | 8q24 | 8q24, TP53 3′ untranslated region | 8q24, PHLDB1 | CDKN2A/B, RTEL1, TERT | CDKN2A/B, RTEL1, TERT, TERC |
SNP denotes single-nucleotide polymorphism, and TCGA the Cancer Genome Atlas.