Table 1.
Gains and losses of mutations in known leukemia driver genes at relapse of AML
| Total number of patients | Age group | Genetics at diagnosis | Number of patients with gain of mutation | Number of patients with loss of mutation | Reference | |
|---|---|---|---|---|---|---|
| FLT3-ITD | ||||||
| Total | 492 | 38 | 25 | |||
| 28 | A | 1 | 1 | [65] | ||
| 28 | A | 6 | 1 | [77] | ||
| 34 | A | 2 | 3 | [76] | ||
| 108 | A | 8 | 1 | [81] | ||
| 31 | A | 1 | 2 | [85] | ||
| 53 | A | NPM1 m | 9 | 3 | [69] | |
| 80 | A, P | 5 | 4 | [79] | ||
| 44 | A, P | 2 | 5 | [80] | ||
| 23 | P | 2 | 1 | [84] | ||
| 63 | P | 2 | 4 | [83] | ||
| FLT3-TKD | ||||||
| Total | 385 | 10 | 24 | |||
| 34 | A | 1 | 3 | [76] | ||
| 120 | A | 6 | 8 | [82] | ||
| 31 | A | 0 | 1 | [85] | ||
| 53 | A | NPM1 m | 0 | 10 | [69] | |
| 53 | A, P | 0 | 1 | [79] | ||
| 44 | A, P | 2 | 0 | [80] | ||
| 50 | P | 1 | 1 | [83] | ||
| NPM1 | ||||||
| Total | 299 | 0 | 9 | |||
| 28 | A | 0 | 0 | [65] | ||
| 34 | A | 0 | 3 | [76] | ||
| 53 | A | NPM1 m | n.a. | 5 | [69] | |
| 70 | A, P | NPM1 m | n.a. | 0 | [124] | |
| 46 | P | 0 | 0 | [125] | ||
| 68 | P | 0 | 1 | [83] | ||
| DNMT3A | ||||||
| Total | 231 | 1 | 2 | |||
| 28 | A | 0 | 0 | [65] | ||
| 34 | A | 0 | 0 | [76] | ||
| 116 | A | 0 | 1 | [87] | ||
| 53 | A | NPM1 m | 1 | 1 | [69] | |
| CEBPA | ||||||
| Total | 241 | 2 | 5 | |||
| 28 | A | 1 | 1 | [65] | ||
| 34 | A | 0 | 2 | [76] | ||
| 149 | A, P | 0 | 2 | [86] | ||
| 30 | P | 1 | 0 | [83] | ||
| IDH2 | ||||||
| Total | 236 | 0 | 1 | |||
| 28 | A | 0 | 0 | [65] | ||
| 34 | A | 0 | 0 | [76] | ||
| 121 | A | 0 | 0 | [126] | ||
| 53 | A | NPM1 m | 0 | 1 | [69] | |
| IDH1 | ||||||
| Total | 115 | 4 | 2 | |||
| 28 | A | 0 | 0 | [65] | ||
| 34 | A | 0 | 0 | [76] | ||
| 53 | A | NPM1 m | 4 | 2 | [69] | |
| NRAS | ||||||
| Total | 106 | 8 | 12 | |||
| 19 | A | 2 | 3 | [77] | ||
| 34 | A | 1 | 0 | [76] | ||
| 53 | A | NPM1 m | 5 | 9 | [69] | |
| KRAS | ||||||
| Total | 62 | 1 | 1 | |||
| 28 | A | 0 | 1 | [65] | ||
| 34 | A | 1 | 0 | [76] | ||
| RAS | ||||||
| Total | 75 | 6 | 8 | |||
| 23 | P | 2 | 1 | [84] | ||
| 52 | P | 4 | 7 | [83] | ||
| TP53 | ||||||
| Total | 104 | 3 | 1 | |||
| 28 | A | 0 | 1 | [77] | ||
| 23 | A | 2 | 0 | [78] | ||
| 53 | A | NPM1 m | 1 | 0 | [69] | |
| WT1 | ||||||
| Total | 104 | 14 | 0 | |||
| 23 | P | 3 | 0 | [84] | ||
| 42 | P | 5 | 0 | [83] | ||
| 39 | P | 6 | 0 | [127] | ||
| ASXL1 | ||||||
| Total | 81 | 2 | 0 | |||
| 28 | A | 0 | 0 | [65] | ||
| 53 | A | NPM1 m | 2 | 0 | [69] | |
| KIT | ||||||
| Total | 35 | 0 | 0 | |||
| 27 | P | 0 | 0 | [83] | ||
| 8 | P | CBF | 0 | 0 | [128] | |
| TET2 | ||||||
| Total | 62 | 0 | 0 | |||
| 28 | A | 0 | 0 | [65] | ||
| 34 | A | 0 | 0 | [76] | ||
| MLL-PTD | ||||||
| 34 | A | 0 | 0 | [76] | ||
| PTPN11 | ||||||
| 23 | P | 0 | 1 | [84] | ||
| RUNX1 | ||||||
| 28 | A | 1 | 1 | [65] | ||
The total number of investigated patients, patient age group, genetics at diagnosis in studies based on selected samples, the number of patients with gain or loss of mutation in the respective gene, and the corresponding references are listed. This table summarizes mutations determined by small scale targeted sequencing approaches. Gains and losses of mutations in these genes were also found through next generation sequencing-based methods, as summarized in Additional file 3: Table S3A and B
A adult, P pediatric, n.a. not applicable, NPM1 m AML with NPM1 mutations, CBF AML with core-binding factor rearrangements