Frequency of gene mutations inde novo and therapy-related myelodysplasia (t-MDS) and therapy-related acute myeloid leukemia (t-AML).
| Type of gene . | Name of gene . | Frequencyde novoMDS, % . | t-MDS, % . | de novoAML, % . | t-AML, % . |
|---|---|---|---|---|---|
| Abbreviations: p.m., point mutation; ITD, internal tandem duplication, c.r., chimeric rearrangement | |||||
| * 15-20% in juvenile myelomonocytic leukemia. | |||||
| † 30-40% in juvenile myelomonocytic leukemia. | |||||
| Tumor suppressor | p53 p.m. | 5-10 | 25-30 | 10-15 | 20-25 |
| Tyrosine kinases | FLT3 ITD | rare | rare | 35-50 | 10 |
| JAK2 p.m. | 2-5 | 2-5 | rare | rare | |
| RAS/BRAF pathway | KRAS/NRAS p.m. | 10* | 10 | 10 | 10 |
| PTPN11 p.m. | 3-5† | 3-5 | 3-5 | 3-5 | |
| Transcription factors | AML1 c.r | rare | 2 | 7-10 | 5-7 |
| CBFB c.r. | rare | rare | 5-8 | 2-3 | |
| MLL c.r. | rare | rare | 5-7 | 5-7 | |
| RARA c.r. | rare | rare | 5-10 | 2-3 | |
| EVI1 c.r. | rare | rare | 2-3 | 2-3 | |
| AML1 p.m. | 10-15 | 15-30 | 5-10 | 2-3 | |
| NPM1 p.m. | rare | 4-5 | 40-50 | 15 | |
| CEBPA p.m. | rare | rare | 15-20 | rare | |
| Type of gene . | Name of gene . | Frequencyde novoMDS, % . | t-MDS, % . | de novoAML, % . | t-AML, % . |
|---|---|---|---|---|---|
| Abbreviations: p.m., point mutation; ITD, internal tandem duplication, c.r., chimeric rearrangement | |||||
| * 15-20% in juvenile myelomonocytic leukemia. | |||||
| † 30-40% in juvenile myelomonocytic leukemia. | |||||
| Tumor suppressor | p53 p.m. | 5-10 | 25-30 | 10-15 | 20-25 |
| Tyrosine kinases | FLT3 ITD | rare | rare | 35-50 | 10 |
| JAK2 p.m. | 2-5 | 2-5 | rare | rare | |
| RAS/BRAF pathway | KRAS/NRAS p.m. | 10* | 10 | 10 | 10 |
| PTPN11 p.m. | 3-5† | 3-5 | 3-5 | 3-5 | |
| Transcription factors | AML1 c.r | rare | 2 | 7-10 | 5-7 |
| CBFB c.r. | rare | rare | 5-8 | 2-3 | |
| MLL c.r. | rare | rare | 5-7 | 5-7 | |
| RARA c.r. | rare | rare | 5-10 | 2-3 | |
| EVI1 c.r. | rare | rare | 2-3 | 2-3 | |
| AML1 p.m. | 10-15 | 15-30 | 5-10 | 2-3 | |
| NPM1 p.m. | rare | 4-5 | 40-50 | 15 | |
| CEBPA p.m. | rare | rare | 15-20 | rare | |