Table 3.
Genomic alterations found in astrocytoma, IDH-mutant in this study.
| No of variants Genes |
CNS WHO grade 2 (n = 16) | CNS WHO grade 3 (n = 43) | CNS WHO grade 4 (n = 36) | Total (n = 95) |
|---|---|---|---|---|
| IDH1 | 100% (95/95) | |||
| R132H (CGT > CAT) | 100% (16/16) | 95.3% (41/43) | 97.2% (35/36) | 96.8% (92/95) |
| R132S (CGT > AGT) | 2.8% (1/36) | 1.1% (1/95) | ||
| R132G (CGT > GGT) | 2.3% (1/43) | 1.1% (1/95) | ||
| IDH2 | ||||
| R172G (AGG > GGG) | 0 | 2.3% (1/43) | 0 | 1.1% (1/95) |
| TP53 | 12.6% (12/95) | 38.9% (37/95) | 34.7% (33/36) | 86.3% (82/95) |
| Missense | 62.5% (10/16) | 55.8% (24/43) | 61.1% (22/36) | 58.9% (56/95) |
| Multi-hit | 12.5% (2/16) | 14.0% (6/43) | 22.2% (8/36) | 16.8% (16/95) |
| Nonsense (Stop gained) | 0 | 4.7% (2/43) | 8.3% (3/36) | 5.3% (5/95) |
| Frameshift | 0 | 7.0% (3/43) | 0 | 3.2% (3/95) |
| Intronic | 0 | 4.7% (2/43) | 0 | 2.1% (2/95) |
| ATRX# | 11.6% (11/95) | 31.6% (36/95) | 32.6% (31/95) | 82.1% (78/95) |
| Frameshift | 31.3% (5/16) | 30.2% (13/43) | 25.0% (9/36) | 28.4% (27/95) |
| Negative (IHC loss) | 31.3% (5/16) | 20.9% (9/43) | 27.8% (10/36) | 25.3% (24/95) |
| Nonsense (Stop gained) | 0 | 23.3% (10/43) | 16.7% (6/36) | 16.8% (16/95) |
| Intronic | 0 | 9.3% (4/43) | 8.3% (3/36) | 7.4% (7/95) |
| Multi-hit | 6.3% (1/16) | 0 | 5.6% (2/36) | 3.2% (3/95) |
| Missense | 0 | 0 | 2.8% (1/36) | 1.1% (1/95) |
| TERT promoter | 6.3% (5/95) | |||
| C228T | 10.0% (2/16) | 7.0% (3/43) | 2.8% (1/36) | 6.3% (6/95) |
| C250T | 0 | 0 | 0 | 0 |
| 19q deletion only | 6.3% (1/16) | 9.3% (4/43) | 22.2% (8/36) | 13.7% (13/95) |
| 1p deletion only | 6.3% (1/16) | 0 | 0 | 1.1% (1/95) |
| 1p/19q-codeletion | 0 | 2.3% (1/43) | 0 | 1.1% (1/95) |
| CDKN2A/2B | ||||
| Homozygous deletion | 0 | 0 | 38.9% (14/36) | 22.6% (14/95) |
| MYCN | ||||
| Amplification | 0 | 0 | 11.1% (4/36) | 6.5% (4/95) |
| PTEN | 24.2% (15/95) | |||
| Hemizygous deletion | 0 | 4.7% (2/43) | 33.3% (12/36) | 22.6% (14/95) |
| Homozygous deletion | 0 | 0 | 2.8% (1/36) | 1.6% (1/95) |
| PDGFRA | 8.4% (8/95) | |||
| Gain | 0 | 0 | 5.6% (2/36) | 2.1% (2/95) |
| Amplification | 0 | 0 | 16.7% (6/36) | 6.3% (6/95) |
| CDK4 amplification | 0 | 0 | 13.9% (5/36) | 5.3% (5/95) |
| MET | 5.3% (5/95) | |||
| Gain | 6.3% (1/16) | 8.3% (3/36) | 4.2% (4/95) | |
| Amplification | 2.8% (1/36) | 1.1% (1/95) | ||
| GLI1 amplification | 0 | 0 | 5.6% (2/36) | 2.1% (2/95) |
| MGMT promoter | ||||
| Methylated | 68.8% (11/16) | 79.1% (34/43) | 69.4% (25/36) | 73.7% (70/95) |
| Unmethylated | 31.3% (5/16) | 20.9% (9/43) | 30.6% (11/36) | 26.3% (25/95) |
IHC immunohistochemistry.
#No novel mutation was found.