Nonsynonymous variations in the zinc-finger domains of GATA2
| Exon . | Variation . | Nucleotide variant . | Amino acid change . | Age, y . | Sex . | WBC-count, × 109/L . | FAB . | Karyotype . | Other mutations . | Follow-up . | Reported previously . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Exon 4 | Missense | c.953C > T | A318V | 18.5 | M | 43.1 | M2 | CN | CEBPA-DM | Relapse at 3.2 y, alive but lost to follow-up 3 mos after relapse | No |
| Exon 5 | Missense | c.1084C > G | R362G | 15.3 | M | 30.8 | M4 | CN | NPM1 | CCR1, 3.4 y | No |
| NRAS | |||||||||||
| Missense | c.1085G > C | R362P | 14.8 | F | 16.0 | M4 | CN | NPM1 | CCR1, 1.8 y | No | |
| NRAS | |||||||||||
| Missense | c.1085G > A | R362Q | 4.0 | M | 354.0 | M1 | CN | CEBPA-DM | CCR1, 3.7 y | Yes26 | |
| WT1 | |||||||||||
| NRAS | |||||||||||
| Deletion | c.1085delG | R362fsX24 | 14.1 | F | NA | M4 | -7 | NRAS | NA | No |
| Exon . | Variation . | Nucleotide variant . | Amino acid change . | Age, y . | Sex . | WBC-count, × 109/L . | FAB . | Karyotype . | Other mutations . | Follow-up . | Reported previously . |
|---|---|---|---|---|---|---|---|---|---|---|---|
| Exon 4 | Missense | c.953C > T | A318V | 18.5 | M | 43.1 | M2 | CN | CEBPA-DM | Relapse at 3.2 y, alive but lost to follow-up 3 mos after relapse | No |
| Exon 5 | Missense | c.1084C > G | R362G | 15.3 | M | 30.8 | M4 | CN | NPM1 | CCR1, 3.4 y | No |
| NRAS | |||||||||||
| Missense | c.1085G > C | R362P | 14.8 | F | 16.0 | M4 | CN | NPM1 | CCR1, 1.8 y | No | |
| NRAS | |||||||||||
| Missense | c.1085G > A | R362Q | 4.0 | M | 354.0 | M1 | CN | CEBPA-DM | CCR1, 3.7 y | Yes26 | |
| WT1 | |||||||||||
| NRAS | |||||||||||
| Deletion | c.1085delG | R362fsX24 | 14.1 | F | NA | M4 | -7 | NRAS | NA | No |
CCR1 indicates continuous first CR; and NA, not available.