Characteristics and hematologic features of patients with isolated and comutated DDX41 mutation
| Variable . | Isolated . | Comutated . | P . |
|---|---|---|---|
| No. of patients, (%) | 20 (60) | 13 (40) | |
| Age, y, median (range), at diagnosis | 65 (30-81) | 66 (50-76) | .767 |
| Sex (male), n (%) | 17 (85) | 7 (54) | .0496* |
| Hemoglobin, g/dL, median (range) | 11.2 (7.5-15.6) | 10.05 (6.6-14) | .1988 |
| Leukocytes, 109/L, median (range) | 2.15 (1-4.4) | 2.4 (1.6-8.5) | .1239 |
| Thrombocytes, 109/L, median (range) | 87 (28-241) | 94 (63-571) | .1443 |
| ANC, median (range) | 0.925 (0.16-3.73) | 1.005 (0.65-4.78) | .2058 |
| MCV median (range) | 104.3 (85.2-114.8) | 105.6 (90-115) | .7151 |
| RDW, median (range) | 14.2 (12.4-23.4) | 15.05 (12.5-21.3) | .2824 |
| BM blasts, median (range) | 13 (1-45) | 12 (0-50) | .6056 |
| BM blasts (AML only), median (range) | 34 (20-45) | 25.5 (21-50) | .91 |
| Number of comutations, median (range) | 0 | 1 (1-3) | |
| DDX41 VAF % | 48 (7-52) | 45 (5-51) | .1656 |
| DDX41 mutations > 1 | 2 (10) | 3 (23) | .306 |
| Pathogenic mutation type | |||
| Missense | 5 (26) | 3 (23) | .8354 |
| Nonsense | 1 (5) | 2 (15) | .3347 |
| Frameshift | 4 (21) | 5 (38) | .2820 |
| Splice site mutation | 0 | 2 (15) | .0774 |
| Start-loss variant | 9 (47) | 1 (7) | .0174* |
| Diagnosis | |||
| MDS | 13 (65) | 6 (46) | .2845 |
| AML | 6 (30) | 4 (30) | .96 |
| MPN | 0 | 2 (15) | |
| Carrier | 1 (5) | 0 | |
| CCUS | 0 | 1 (7) | |
| Abnormal cytogenetics | 0 | 3 (25) | .0188* |
| Family history | |||
| Solid or hematologic malignancies | 11 (61) | 12 (92) | .0501 |
| Solid tumors | 6 (33) | 10 (77) | .0166* |
| Hematologic malignancies | 8 (44) | 4 (30) | .4405 |
| Gastrointestinal malignancies | 3 (15) | 3 (23) | .6040 |
| Genitourinary malignancies | 2 (10) | 4 (30) | .1496 |
| Lung cancer | 1 (5) | 3 (23) | .1345 |
| Breast cancer | 2 (10) | 2 (15) | .6832 |
| Any personal history | |||
| Hematologic malignancies | 0 | 1 (7) | .2078 |
| Solid tumors | 1 (5) | 3 (23) | .1200 |
| DDX41 VUS | |||
| Yes | 5 (25) | 4 (30) | .7161 |
| No | 15 (75) | 9 (70) |
| Variable . | Isolated . | Comutated . | P . |
|---|---|---|---|
| No. of patients, (%) | 20 (60) | 13 (40) | |
| Age, y, median (range), at diagnosis | 65 (30-81) | 66 (50-76) | .767 |
| Sex (male), n (%) | 17 (85) | 7 (54) | .0496* |
| Hemoglobin, g/dL, median (range) | 11.2 (7.5-15.6) | 10.05 (6.6-14) | .1988 |
| Leukocytes, 109/L, median (range) | 2.15 (1-4.4) | 2.4 (1.6-8.5) | .1239 |
| Thrombocytes, 109/L, median (range) | 87 (28-241) | 94 (63-571) | .1443 |
| ANC, median (range) | 0.925 (0.16-3.73) | 1.005 (0.65-4.78) | .2058 |
| MCV median (range) | 104.3 (85.2-114.8) | 105.6 (90-115) | .7151 |
| RDW, median (range) | 14.2 (12.4-23.4) | 15.05 (12.5-21.3) | .2824 |
| BM blasts, median (range) | 13 (1-45) | 12 (0-50) | .6056 |
| BM blasts (AML only), median (range) | 34 (20-45) | 25.5 (21-50) | .91 |
| Number of comutations, median (range) | 0 | 1 (1-3) | |
| DDX41 VAF % | 48 (7-52) | 45 (5-51) | .1656 |
| DDX41 mutations > 1 | 2 (10) | 3 (23) | .306 |
| Pathogenic mutation type | |||
| Missense | 5 (26) | 3 (23) | .8354 |
| Nonsense | 1 (5) | 2 (15) | .3347 |
| Frameshift | 4 (21) | 5 (38) | .2820 |
| Splice site mutation | 0 | 2 (15) | .0774 |
| Start-loss variant | 9 (47) | 1 (7) | .0174* |
| Diagnosis | |||
| MDS | 13 (65) | 6 (46) | .2845 |
| AML | 6 (30) | 4 (30) | .96 |
| MPN | 0 | 2 (15) | |
| Carrier | 1 (5) | 0 | |
| CCUS | 0 | 1 (7) | |
| Abnormal cytogenetics | 0 | 3 (25) | .0188* |
| Family history | |||
| Solid or hematologic malignancies | 11 (61) | 12 (92) | .0501 |
| Solid tumors | 6 (33) | 10 (77) | .0166* |
| Hematologic malignancies | 8 (44) | 4 (30) | .4405 |
| Gastrointestinal malignancies | 3 (15) | 3 (23) | .6040 |
| Genitourinary malignancies | 2 (10) | 4 (30) | .1496 |
| Lung cancer | 1 (5) | 3 (23) | .1345 |
| Breast cancer | 2 (10) | 2 (15) | .6832 |
| Any personal history | |||
| Hematologic malignancies | 0 | 1 (7) | .2078 |
| Solid tumors | 1 (5) | 3 (23) | .1200 |
| DDX41 VUS | |||
| Yes | 5 (25) | 4 (30) | .7161 |
| No | 15 (75) | 9 (70) |
ANC, absolute neutrophil count; BM, bone marrow; CCUS, clonal cytopenia of undetermined significance; MCV, mean corpuscular volume; MPN, myeloproliferative neoplasms; RDW, red cell distribution width.
Statistically significant.