Characteristics at hematological diagnosis of patients with a germline DDX41 causal variant (N = 33)
| Characteristic . | Patients, n (%) . |
|---|---|
| Sex | |
| Male | 26 (79) |
| Female | 7 (21) |
| Age at hematological diagnosis, y | |
| Median | 69 |
| Range | 36-88 |
| Family history of HM | 9 (27) |
| Personal history of lymphoid malignant disease | 3 (9) |
| Personal history of cytopenia | 15 (45) |
| BM evaluation | |
| Aplastic anemia | 3 (9) |
| MDS-MLD | 4 (12) |
| MDS-EB | 11 (33) |
| AML | 11 (33) |
| MDS/MPN | 3 (9) |
| Cytogenetics | |
| Normal | 28 (85) |
| Tri(8) | 2 (6) |
| Del20q | 1 (3) |
| Complex | 1 (3) |
| NA | 1 (3) |
| Somatic mutations | 29 (88) |
| DDX41 | 26 (79) |
| Other genes | 22 (67) |
| Characteristic . | Patients, n (%) . |
|---|---|
| Sex | |
| Male | 26 (79) |
| Female | 7 (21) |
| Age at hematological diagnosis, y | |
| Median | 69 |
| Range | 36-88 |
| Family history of HM | 9 (27) |
| Personal history of lymphoid malignant disease | 3 (9) |
| Personal history of cytopenia | 15 (45) |
| BM evaluation | |
| Aplastic anemia | 3 (9) |
| MDS-MLD | 4 (12) |
| MDS-EB | 11 (33) |
| AML | 11 (33) |
| MDS/MPN | 3 (9) |
| Cytogenetics | |
| Normal | 28 (85) |
| Tri(8) | 2 (6) |
| Del20q | 1 (3) |
| Complex | 1 (3) |
| NA | 1 (3) |
| Somatic mutations | 29 (88) |
| DDX41 | 26 (79) |
| Other genes | 22 (67) |
BM, bone marrow; HM, hematopoietic malignancy; MDS-EB, MDS with excess blasts; MDS-MLD, MDS with multilineage dysplasia; MPN, myeloproliferative neoplasm; NA, not available.