Frequency of molecular mutations in distinct cytogenetic risk groups
| . | Favorable . | Intermediate . | Unfavorable . | ||||
|---|---|---|---|---|---|---|---|
| t(15;17)(q22;q12) PML/RARA, n = 33 (%) . | t(8;21)(q22;q22) RUNX1/RUNX1T1, n = 40 (%) . | inv(16)(p13q22) CBFB/MYH11, n = 33 (%) . | Normal karyotype, n = 447 (%) . | Intermediate-risk aberrant karyotype, n = 241 (%) . | Complex karyotype, n = 116 (%) . | Other unfavorable, n = 90 (%) . | |
| NPM1 | 0/12 | 0/36 | 0/24 | 228/447 (51.0) | 47/241 (19.5) | 4/116 (3.4) | 3/90 (3.3) |
| FLT3-ITD | 18/33 (54) | 1/39 (2.6) | 6/33 (18.2) | 95/447 (21.3) | 28/241 (11.6) | 4/116 (3.4) | 7/90 (7.8) |
| CEPBA | 2/33 (6.1) | 0/39 | 0/31 | 52/447 (11.6) | 16/241 (6.6) | 1/116 (0.9) | 4/90 (4.4) |
| CEPBA single-mut | 2/2 | 0/0 | 0/0 | 17/52 (32.7) | 8/16 (50.0) | 1/1 | 3/4 |
| CEPBA double-mut | 0/2 | 0/0 | 0/0 | 35/52 (67.3) | 8/16 (50.0) | 0/1 | 1/4 |
| MLL-PTD | 0/2 | 0/31 | 0/25 | 35/447 (7.8) | 11/241 (4.6) | 3/116 (2.6) | 8/90 (8.9) |
| ASXL1 | 0/0 | 0/39 | 0/4 | 55/447 (12.3) | 62/241 (25.7) | 9/116 (7.8) | 18/90 (20) |
| RUNX1 | 0/0 | 0/2 | 0/11 | 78/447 (17.4) | 59/241 (24.5) | 5/116 (4.3) | 20/90 (22.2) |
| TP53 | 0/33 | 1/40 (2.5) | 0/33 | 5/447 (1.1) | 7/241 (2.9) | 85/116 (73.3) | 17/90 (18.9) |
| . | Favorable . | Intermediate . | Unfavorable . | ||||
|---|---|---|---|---|---|---|---|
| t(15;17)(q22;q12) PML/RARA, n = 33 (%) . | t(8;21)(q22;q22) RUNX1/RUNX1T1, n = 40 (%) . | inv(16)(p13q22) CBFB/MYH11, n = 33 (%) . | Normal karyotype, n = 447 (%) . | Intermediate-risk aberrant karyotype, n = 241 (%) . | Complex karyotype, n = 116 (%) . | Other unfavorable, n = 90 (%) . | |
| NPM1 | 0/12 | 0/36 | 0/24 | 228/447 (51.0) | 47/241 (19.5) | 4/116 (3.4) | 3/90 (3.3) |
| FLT3-ITD | 18/33 (54) | 1/39 (2.6) | 6/33 (18.2) | 95/447 (21.3) | 28/241 (11.6) | 4/116 (3.4) | 7/90 (7.8) |
| CEPBA | 2/33 (6.1) | 0/39 | 0/31 | 52/447 (11.6) | 16/241 (6.6) | 1/116 (0.9) | 4/90 (4.4) |
| CEPBA single-mut | 2/2 | 0/0 | 0/0 | 17/52 (32.7) | 8/16 (50.0) | 1/1 | 3/4 |
| CEPBA double-mut | 0/2 | 0/0 | 0/0 | 35/52 (67.3) | 8/16 (50.0) | 0/1 | 1/4 |
| MLL-PTD | 0/2 | 0/31 | 0/25 | 35/447 (7.8) | 11/241 (4.6) | 3/116 (2.6) | 8/90 (8.9) |
| ASXL1 | 0/0 | 0/39 | 0/4 | 55/447 (12.3) | 62/241 (25.7) | 9/116 (7.8) | 18/90 (20) |
| RUNX1 | 0/0 | 0/2 | 0/11 | 78/447 (17.4) | 59/241 (24.5) | 5/116 (4.3) | 20/90 (22.2) |
| TP53 | 0/33 | 1/40 (2.5) | 0/33 | 5/447 (1.1) | 7/241 (2.9) | 85/116 (73.3) | 17/90 (18.9) |
Within the favorable cytogenetic risk group, cases were not analyzed for all molecular markers because the hierarchical model prognostic assignment was based on the detection of the specific fusion transcript irrespective of further mutations.