Table 4 Genetic profile of 11 cases of ATRX-intact astrocytoma, IDH-mutant.
Case | TERTp (n = 5) | TP53-mutation (%: VAF) (n = 13) | Copy number variation (n = 9) | Others (%: VAF) |
|---|---|---|---|---|
1 | C228T | p.Arg273Cys, c.817C > T (84.2%) | MYCN amplification (X21) GLI amplification (X21) CDK4 amplification (X21) | |
2 | C228T | p.Val197Gly, c.590 T > G (7.5%) p.Arg273Cys, c.817C > T (6.7%) | Chr 19 deletion (1 copy) | FUBP1 p.Asp83_Ser84delins Ala, c.248_250 + 1delACTG (13.5%) |
3 | C228T | p.Glu224*, c.670G > T (85.7%) | Chr 11 gain, Chr 22 deletion, 1p/19q co-deletion | |
4 | C228T | p.Tyr220Cys, c.659A > G (7.5%) | Absent | CIC p.His264Arg, c.791A > G (83%) |
5 | C228T | Absent | Absent | |
6 | Absent | p.Val274Ala, c.821 T > C (91.1%) | PDGFRA amp (X16), CDKN2A/2B homozygous deletion PTEN homozygous deletion RB1 homozygous deletion | |
7 | Absent | p.His179Tyr, c.535C > T (88.0%) | MYCN amp (X20) CDKN2A/2B homozygous deletion PTEN hemizygous deletion Chr 19 deletion | |
8 | Absent | p.Phe113Val, c.337 T > G (56.5%) | EGFR amplification CDK4 amplification | |
9 | Absent | p.Gly59fs, c.168_175dupAGACCCAG (32.0%) | PTEN hemizygous deletion | |
10 | Absent | p.Arg282Trp, c.844C > T (93.8%) | CDK4 amplification | |
11 | Absent | p.Arg248Trp, c.742C > T (29.6%) | Chr 7 gain | |
12 | Absent | p.His179Arg, c.536A > G (80.2%) | Absent | |
13 | Absent | p.His193Arg, c.578A > G (59.8%) | Absent | |
14 | Absent | p.Phe113Val, c.337 T > G (55.79%) | Absent | APC p.Ala1492Thr, c.4474G > A (10.33%) |
15 | Absent | Absent | Absent | NF1 p.Leu2324*, c.6971 T > A (25.93%) |
16 | Absent | Absent | Absent | |
17 | Absent | Absent | Absent |
