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. Author manuscript; available in PMC: 2015 Dec 25.
Published in final edited form as: N Engl J Med. 2015 Jun 10;372(26):2499–2508. doi: 10.1056/NEJMoa1407279

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.