Comparison of pretreatment characteristics between patients with and without mutations in the cohesin complex genes
| Characteristic . | Cohesin genes mutated (n = 23) no. (%) . | Cohesin genes wild-type (n = 366) no. (%) . | P . |
|---|---|---|---|
| Age, years | .13 | ||
| Median | 46 | 44.5 | |
| Range | 28-60 | 17-60 | |
| Sex | .58 | ||
| Male | 13 (57%) | 185 (51%) | |
| Female | 10 (43%) | 181 (49%) | |
| ECOG performance status | .37 | ||
| 0 | 5 (22%) | 90 (25%) | |
| 1 | 16 (70%) | 221 (60%) | |
| 2 | 1 (4%) | 53 (14%) | |
| Missing data | 1 (4%) | 2 (1%) | |
| FAB-subtype | .53 | ||
| M0 | 0 (0%) | 7 (2%) | |
| M1 | 8 (35%) | 59 (16%) | |
| M2 | 5 (22%) | 90 (25%) | |
| M4 | 7 (30%) | 111 (30%) | |
| M5 | 2 (9%) | 56 (15%) | |
| M6 | 0 (0%) | 6 (2%) | |
| M7 | 0 (0%) | 3 (1%) | |
| Missing data | 1 (4%) | 17 (5%) | |
| Type of AML | .32 | ||
| De novo | 22 (96%) | 326 (89%) | |
| Secondary | 1 (4%) | 40 (11%) | |
| Cytogenetic risk group† | .26 | ||
| Favorable | 1 (4%) | 61 (17%) | |
| Intermediate | 17 (74%) | 257 (70%) | |
| Adverse | 4 (17%) | 44 (12%) | |
| Missing data | 1 (4%) | 4 (1%) | |
| Peripheral blood blasts | .1 | ||
| Mean | 58.1 | 46.7 | |
| Missing data | 1 (4%) | 15 (4%) | |
| Bone marrow blasts | .6 | ||
| Mean | 74.1 | 71.4 | |
| Missing data | 0 (0%) | 24 (7%) | |
| WBC count | .66 | ||
| Median (x109/L) | 26.6 | 21.6 | |
| Range (x109/L) | 1.3-229 | 0.5-328 | |
| Missing data | 0 (0%) | 1 (0%) | |
| Hemoglobin | .09 | ||
| Median (g/L) | 8.4 | 9 | |
| Range (g/L) | 5.5-11.8 | 3-15.4 | |
| Missing data | 0 (0%) | 9 (2%) | |
| Platelet count | .26 | ||
| Median – (x109/L) | 39 | 48.5 | |
| Range – (x109/L) | 7-215 | 2.6-483 | |
| Missing data | 0 (0%) | 10 (3%) | |
| FLT3-ITD | .93 | ||
| Mutated | 6 (26%) | 98 (27%) | |
| Wild-type | 17 (74%) | 266 (73%) | |
| Missing | 0 (0%) | 2 (1%) | |
| NPM1 | .029 | ||
| Mutated | 13 (57%) | 124 (34%) | |
| Wild-type | 10 (43%) | 240 (66%) | |
| Missing | 0 (0%) | 2 (1%) | |
| NPM1/FLT3 mutation risk group | .024 | ||
| Low risk* | 9 (39%) | 71 (19%) | |
| High risk* | 14 (61%) | 293 (80%) | |
| Missing | 0 (0%) | 2 (1%) | |
| IDH1 | .15 | ||
| R132 mutated | 0 (0%) | 26 (7%) | |
| Wild-type | 22 (96%) | 276 (75%) | |
| Missing | 1 (4%) | 64 (17%) | |
| IDH2 | .43 | ||
| Mutated | 1 (4%) | 30 (8%) | |
| Wild-type | 20 (87%) | 271 (74%) | |
| Missing | 2 (9%) | 65 (18%) | |
| IDH1/2 | .11 | ||
| Mutated | 1 (4%) | 56 (15%) | |
| Wild-type | 20 (87%) | 244 (67%) | |
| Missing | 2 (9%) | 66 (18%) | |
| DNMT3A | .4 | ||
| Mutated | 6 (26%) | 68 (19%) | |
| Wild-type | 17 (74%) | 292 (80%) | |
| Missing | 0 (0%) | 6 (2%) | |
| NRAS | .48 | ||
| Mutated | 2 (9%) | 50 (14%) | |
| Wild-type | 18 (78%) | 263 (72%) | |
| Missing | 3 (13%) | 53 (14%) | |
| MN1 | .071 | ||
| Median copy number (relative MN1/ABL) | 9.03 | 15.15 | |
| Range (relative MN1/ABL) | 0.31-31.7 | 0.62-5134.5 | |
| BAALC | .033 | ||
| Median copy number (relative BAALC/ABL) | 1.70 | 4.70 | |
| Range (relative BAALC/ABL) | 0.04-26.2 | 0.026-806.4 | |
| ERG | .64 | ||
| Median copy number (relative ERG/ABL) | 28.1 | 33.4 | |
| Range (relative ERG/ABL) | 0.67-125.3 | 0.07-1605.7 | |
| EVI1 | .47 | ||
| Expressers | 0 (0%) | 6 (2%) | |
| Nonexpressers | 14 (61%) | 157 (43%) | |
| Missing | 9 (39%) | 203 (55%) | |
| MLL5 | .85 | ||
| Median copy number (relative MLL5/ABL) | 34.3 | 38.2 | |
| Range (relative MLL5/ABL) | 14.04-174.5 | 4.45-498 | |
| WT1 | .29 | ||
| Median copy number (relative WT1/ABL) | 0.87 | 1.2 | |
| Range (relative WT1/ABL) | 0.035-5.88 | 0.001-231.3 |
| Characteristic . | Cohesin genes mutated (n = 23) no. (%) . | Cohesin genes wild-type (n = 366) no. (%) . | P . |
|---|---|---|---|
| Age, years | .13 | ||
| Median | 46 | 44.5 | |
| Range | 28-60 | 17-60 | |
| Sex | .58 | ||
| Male | 13 (57%) | 185 (51%) | |
| Female | 10 (43%) | 181 (49%) | |
| ECOG performance status | .37 | ||
| 0 | 5 (22%) | 90 (25%) | |
| 1 | 16 (70%) | 221 (60%) | |
| 2 | 1 (4%) | 53 (14%) | |
| Missing data | 1 (4%) | 2 (1%) | |
| FAB-subtype | .53 | ||
| M0 | 0 (0%) | 7 (2%) | |
| M1 | 8 (35%) | 59 (16%) | |
| M2 | 5 (22%) | 90 (25%) | |
| M4 | 7 (30%) | 111 (30%) | |
| M5 | 2 (9%) | 56 (15%) | |
| M6 | 0 (0%) | 6 (2%) | |
| M7 | 0 (0%) | 3 (1%) | |
| Missing data | 1 (4%) | 17 (5%) | |
| Type of AML | .32 | ||
| De novo | 22 (96%) | 326 (89%) | |
| Secondary | 1 (4%) | 40 (11%) | |
| Cytogenetic risk group† | .26 | ||
| Favorable | 1 (4%) | 61 (17%) | |
| Intermediate | 17 (74%) | 257 (70%) | |
| Adverse | 4 (17%) | 44 (12%) | |
| Missing data | 1 (4%) | 4 (1%) | |
| Peripheral blood blasts | .1 | ||
| Mean | 58.1 | 46.7 | |
| Missing data | 1 (4%) | 15 (4%) | |
| Bone marrow blasts | .6 | ||
| Mean | 74.1 | 71.4 | |
| Missing data | 0 (0%) | 24 (7%) | |
| WBC count | .66 | ||
| Median (x109/L) | 26.6 | 21.6 | |
| Range (x109/L) | 1.3-229 | 0.5-328 | |
| Missing data | 0 (0%) | 1 (0%) | |
| Hemoglobin | .09 | ||
| Median (g/L) | 8.4 | 9 | |
| Range (g/L) | 5.5-11.8 | 3-15.4 | |
| Missing data | 0 (0%) | 9 (2%) | |
| Platelet count | .26 | ||
| Median – (x109/L) | 39 | 48.5 | |
| Range – (x109/L) | 7-215 | 2.6-483 | |
| Missing data | 0 (0%) | 10 (3%) | |
| FLT3-ITD | .93 | ||
| Mutated | 6 (26%) | 98 (27%) | |
| Wild-type | 17 (74%) | 266 (73%) | |
| Missing | 0 (0%) | 2 (1%) | |
| NPM1 | .029 | ||
| Mutated | 13 (57%) | 124 (34%) | |
| Wild-type | 10 (43%) | 240 (66%) | |
| Missing | 0 (0%) | 2 (1%) | |
| NPM1/FLT3 mutation risk group | .024 | ||
| Low risk* | 9 (39%) | 71 (19%) | |
| High risk* | 14 (61%) | 293 (80%) | |
| Missing | 0 (0%) | 2 (1%) | |
| IDH1 | .15 | ||
| R132 mutated | 0 (0%) | 26 (7%) | |
| Wild-type | 22 (96%) | 276 (75%) | |
| Missing | 1 (4%) | 64 (17%) | |
| IDH2 | .43 | ||
| Mutated | 1 (4%) | 30 (8%) | |
| Wild-type | 20 (87%) | 271 (74%) | |
| Missing | 2 (9%) | 65 (18%) | |
| IDH1/2 | .11 | ||
| Mutated | 1 (4%) | 56 (15%) | |
| Wild-type | 20 (87%) | 244 (67%) | |
| Missing | 2 (9%) | 66 (18%) | |
| DNMT3A | .4 | ||
| Mutated | 6 (26%) | 68 (19%) | |
| Wild-type | 17 (74%) | 292 (80%) | |
| Missing | 0 (0%) | 6 (2%) | |
| NRAS | .48 | ||
| Mutated | 2 (9%) | 50 (14%) | |
| Wild-type | 18 (78%) | 263 (72%) | |
| Missing | 3 (13%) | 53 (14%) | |
| MN1 | .071 | ||
| Median copy number (relative MN1/ABL) | 9.03 | 15.15 | |
| Range (relative MN1/ABL) | 0.31-31.7 | 0.62-5134.5 | |
| BAALC | .033 | ||
| Median copy number (relative BAALC/ABL) | 1.70 | 4.70 | |
| Range (relative BAALC/ABL) | 0.04-26.2 | 0.026-806.4 | |
| ERG | .64 | ||
| Median copy number (relative ERG/ABL) | 28.1 | 33.4 | |
| Range (relative ERG/ABL) | 0.67-125.3 | 0.07-1605.7 | |
| EVI1 | .47 | ||
| Expressers | 0 (0%) | 6 (2%) | |
| Nonexpressers | 14 (61%) | 157 (43%) | |
| Missing | 9 (39%) | 203 (55%) | |
| MLL5 | .85 | ||
| Median copy number (relative MLL5/ABL) | 34.3 | 38.2 | |
| Range (relative MLL5/ABL) | 14.04-174.5 | 4.45-498 | |
| WT1 | .29 | ||
| Median copy number (relative WT1/ABL) | 0.87 | 1.2 | |
| Range (relative WT1/ABL) | 0.035-5.88 | 0.001-231.3 |
ECOG, performance status of the Eastern Cooperative Oncology Group; FAB, French-American-British classification of AML; FLT3-ITD, internal tandem duplication of the FLT3 gene; no., number; P, P value from two-sided χ-squared tests for categorical variables and from 2-sided Student t or Kolmogorov-Smirnov tests for continuous variables.
The high-risk molecular group is defined as either NPM1wild-type/FLT3-ITDnegative, or NPM1wild-type/FLT3-ITDpositive, or NPM1mutated/FLT3-ITDpositive. The low-risk molecular group is defined by the presence of an NPM1 mutation and the absence of FLT3-ITD.
The cytogenetic risk group is defined according to Medical Research Council criteria.30