Mutation frequencies in CBF-AML
| Mutated gene/locus . | t(8;21) cases n, (%) . | inv(16) cases n, (%) . | All cases n, (%) . |
|---|---|---|---|
| NRAS, 1p13.2 | |||
| Sequence mutation | 25/130 (19) | 53/135 (39) | 78/265 (29) |
| CNA | 0 | 0 | 0 |
| LOH | 2 | 1 | 3 |
| KRAS, 12p12.1 | |||
| Sequence mutation | 5/95 (5) | 12/97 (12) | 17/192 (9) |
| CNA | 0 | 0 | 0 |
| LOH | 0 | 0 | 0 |
| FLT3-TKD, 13q12.2 | |||
| Sequence mutation | 4/125 (3) | 19/133 (14) | 23/258 (9) |
| CNA | 0 | 0 | 0 |
| LOH | 0 | 0 | 0 |
| FLT3-ITD, 13q12.2 | |||
| Sequence mutation | 12/126 (10) | 7/133 (5%) | 19/259 (7) |
| CNA | 0 | 0 | 0 |
| LOH | 0 | 0 | 0 |
| KIT, 4q12 | |||
| Sequence mutation | 30/120 (25) | 44/124 (35) | 74/244 (30) |
| CNA | 0 | 0 | 0 |
| LOH | 0 | 0 | 0 |
| CBL, 11q23.3 | |||
| Sequence mutation | 0/81 (0) | 4/79 (5) | 4/160 (3) |
| CNA | 0 | 0 | 0 |
| LOH | 0 | 0 | 0 |
| JAK2, 9p24.1 | |||
| Sequence mutation | 3/110 (3) | 0/111 (0) | 3/221 (1) |
| CNA | 0 | 0 | 0 |
| LOH | 0 | 0 | 0 |
| WT1, 11p13 | |||
| Sequence mutation | 1/95 (1) | 10/106 (9) | 11/201 (5) |
| CNA | 2 | 5 | 7 |
| LOH | 0 | 1 | 1 |
| CEBPA, 19q13.11 | |||
| Sequence mutation | 1/27 (4) | 1/16 (6) | 2/43 (5) |
| CNA | 0 | 0 | 0 |
| LOH | 0 | 0 | 0 |
| NPM1, 5q35.1 | |||
| Sequence mutation | 0/90 (0) | 1/93 (1) | 1/183 (1) |
| CNA | 0 | 0 | 0 |
| LOH | 0 | 0 | 0 |
| MLL-PTD, 11q23.3 | |||
| Sequence mutation | 1/74 (1) | 0/70 (0) | 1/144 (1) |
| CNA | 0 | 1 | 1 |
| LOH | 0 | 0 | 0 |
| MLL3, 7q36.1 | |||
| Sequence mutation | 1/23 (4) | 0/23 (0) | 1/46 (2) |
| CNA | 10 | 13 | 23 |
| LOH | 1 | 0 | 1 |
| Mutated gene/locus . | t(8;21) cases n, (%) . | inv(16) cases n, (%) . | All cases n, (%) . |
|---|---|---|---|
| NRAS, 1p13.2 | |||
| Sequence mutation | 25/130 (19) | 53/135 (39) | 78/265 (29) |
| CNA | 0 | 0 | 0 |
| LOH | 2 | 1 | 3 |
| KRAS, 12p12.1 | |||
| Sequence mutation | 5/95 (5) | 12/97 (12) | 17/192 (9) |
| CNA | 0 | 0 | 0 |
| LOH | 0 | 0 | 0 |
| FLT3-TKD, 13q12.2 | |||
| Sequence mutation | 4/125 (3) | 19/133 (14) | 23/258 (9) |
| CNA | 0 | 0 | 0 |
| LOH | 0 | 0 | 0 |
| FLT3-ITD, 13q12.2 | |||
| Sequence mutation | 12/126 (10) | 7/133 (5%) | 19/259 (7) |
| CNA | 0 | 0 | 0 |
| LOH | 0 | 0 | 0 |
| KIT, 4q12 | |||
| Sequence mutation | 30/120 (25) | 44/124 (35) | 74/244 (30) |
| CNA | 0 | 0 | 0 |
| LOH | 0 | 0 | 0 |
| CBL, 11q23.3 | |||
| Sequence mutation | 0/81 (0) | 4/79 (5) | 4/160 (3) |
| CNA | 0 | 0 | 0 |
| LOH | 0 | 0 | 0 |
| JAK2, 9p24.1 | |||
| Sequence mutation | 3/110 (3) | 0/111 (0) | 3/221 (1) |
| CNA | 0 | 0 | 0 |
| LOH | 0 | 0 | 0 |
| WT1, 11p13 | |||
| Sequence mutation | 1/95 (1) | 10/106 (9) | 11/201 (5) |
| CNA | 2 | 5 | 7 |
| LOH | 0 | 1 | 1 |
| CEBPA, 19q13.11 | |||
| Sequence mutation | 1/27 (4) | 1/16 (6) | 2/43 (5) |
| CNA | 0 | 0 | 0 |
| LOH | 0 | 0 | 0 |
| NPM1, 5q35.1 | |||
| Sequence mutation | 0/90 (0) | 1/93 (1) | 1/183 (1) |
| CNA | 0 | 0 | 0 |
| LOH | 0 | 0 | 0 |
| MLL-PTD, 11q23.3 | |||
| Sequence mutation | 1/74 (1) | 0/70 (0) | 1/144 (1) |
| CNA | 0 | 1 | 1 |
| LOH | 0 | 0 | 0 |
| MLL3, 7q36.1 | |||
| Sequence mutation | 1/23 (4) | 0/23 (0) | 1/46 (2) |
| CNA | 10 | 13 | 23 |
| LOH | 1 | 0 | 1 |
CBF-AML indicates core-binding factor acute myeloid leukemia; CNA, copy-number alterations; ITD, internal tandem duplications; LOH, loss of heterozygosity; PTD, partial tandem duplications; and TKD, tyrosine kinase domain.