Common genetic alterations found in malignant progression of GATA2 deficiency
| Study . | Karyotype∗ . | Cytogenetics preleukemic . | MDS/AML . | Gene . | Mutations preleukemic†,‡ . | MDS/AML . |
|---|---|---|---|---|---|---|
| McReynolds et al31 | Trisomy 8 | 8% | 36% | ASXL1 | 23% | 27% |
| STAG2 | ND | 27% | ||||
| MLL | ND | 18% | ||||
| West et al32 | Trisomy 8 | ND | 43% | ASXL1 | 11% | 16% |
| Monosomy 7 | 2% | 18% | STAG2 | 21% | 31% | |
| Der(1;7) | 2% | 8% | DNMT3A | 9% | 10% | |
| Largeaud et al38 | Monosomy 7 | 22% | 47% | SETBP1 | 5% | 42% |
| Trisomy 8 | 27% | 11% | STAG2 | 37% | 16% | |
| Der(1;7) | 8% | 11% | ASXL1 | 19% | 32% | |
| RUNX1 | 2% | 21% | ||||
| RAS§ | ND | 26% |
| Study . | Karyotype∗ . | Cytogenetics preleukemic . | MDS/AML . | Gene . | Mutations preleukemic†,‡ . | MDS/AML . |
|---|---|---|---|---|---|---|
| McReynolds et al31 | Trisomy 8 | 8% | 36% | ASXL1 | 23% | 27% |
| STAG2 | ND | 27% | ||||
| MLL | ND | 18% | ||||
| West et al32 | Trisomy 8 | ND | 43% | ASXL1 | 11% | 16% |
| Monosomy 7 | 2% | 18% | STAG2 | 21% | 31% | |
| Der(1;7) | 2% | 8% | DNMT3A | 9% | 10% | |
| Largeaud et al38 | Monosomy 7 | 22% | 47% | SETBP1 | 5% | 42% |
| Trisomy 8 | 27% | 11% | STAG2 | 37% | 16% | |
| Der(1;7) | 8% | 11% | ASXL1 | 19% | 32% | |
| RUNX1 | 2% | 21% | ||||
| RAS§ | ND | 26% |
ND, not deleted.
The most common karyotypic alterations are shown.
Preleukemic includes germ line GATA2 patients without MDS/AML.
The Largeaud et al study includes patients with evidence of MDS but with <5% blasts; they are considered preleukemic here.
RAS pathway genes including PTPN11, NRAS, KRAS, and CBL.