Frequency and types of secondary genetic abnormalities in 176 patients with inv(16) AML
| Secondary genetic abnormality . | Patients with aberration, n (%) . | Patients with missing values, n . |
|---|---|---|
| Chromosomal aberration | 8 | |
| Absent | 103 (61) | |
| Present* | 65 (39) | |
| Trisomy 22 | 31 (18) | |
| Trisomy 8 | 27 (16) | |
| Del(7q) | 9 (5) | |
| Other | 10 (6) | |
| RAS mutation† | 91 (53) | 3 |
| NRAS mutation‡ | 78 (45) | 1 |
| Exon 1 | 45 (26) | 1 |
| Exon 2 | 42 (24) | 1 |
| KRAS mutation | 22 (13) | 3 |
| Exon 1 | 19 (11) | 3 |
| Exon 2 | 3 (2) | 1 |
| KIT mutation§ | 65 (37) | 1 |
| Exon 8‖ | 44 (25) | 1 |
| Exon 10 | 0 (0) | 0 |
| Exon 11 | 3 (2) | 0 |
| Exon 17 | 24 (14) | 0 |
| FLT3 mutation¶ | 30 (17) | 1 |
| FLT3-ITD | 8 (5) | 1 |
| FLT3-TKD | 25 (14) | 1 |
| JAK2V617F mutation | 0 | 2 |
| Secondary genetic abnormality . | Patients with aberration, n (%) . | Patients with missing values, n . |
|---|---|---|
| Chromosomal aberration | 8 | |
| Absent | 103 (61) | |
| Present* | 65 (39) | |
| Trisomy 22 | 31 (18) | |
| Trisomy 8 | 27 (16) | |
| Del(7q) | 9 (5) | |
| Other | 10 (6) | |
| RAS mutation† | 91 (53) | 3 |
| NRAS mutation‡ | 78 (45) | 1 |
| Exon 1 | 45 (26) | 1 |
| Exon 2 | 42 (24) | 1 |
| KRAS mutation | 22 (13) | 3 |
| Exon 1 | 19 (11) | 3 |
| Exon 2 | 3 (2) | 1 |
| KIT mutation§ | 65 (37) | 1 |
| Exon 8‖ | 44 (25) | 1 |
| Exon 10 | 0 (0) | 0 |
| Exon 11 | 3 (2) | 0 |
| Exon 17 | 24 (14) | 0 |
| FLT3 mutation¶ | 30 (17) | 1 |
| FLT3-ITD | 8 (5) | 1 |
| FLT3-TKD | 25 (14) | 1 |
| JAK2V617F mutation | 0 | 2 |
To estimate the frequency of a distinct genetic lesion in the entire cohort data on missing cases is considered in the denominator.
There were patients with more than 1 additional chromosome aberration; thus, the numbers for the distinct additional chromosome aberrations add to more than 65.
Nine cases with a mutation in both NRAS and KRAS.
Nine cases with a NRAS mutation in both exon 1 and 2.
Six cases with a KIT mutation in both exon 8 and 17.
One case scored as mutated by DHPLC but could not be resolved by sequencing due to the presence of low number of mutated cells in the sample.
Three cases with concurrent FLT3-ITD and FLT3-TKD mutation.