Table 1.
Characteristics of germline DDX41 mutation carriers (n = 33).
| Characteristic | Patients, n (%) |
|---|---|
| Sex | |
| Male | 26 (79) |
| Female | 7 (21) |
| Age at hematologic malignancy, years | |
| Median | 67 |
| Range | 54–85 |
| Family history of hematologic malignancy and/or cytopenias | 13 (39) |
| Personal history of prior malignancy | 8 (24) |
| Personal history of cytopenias | 22 (66) |
| Hematologic Malignancy | |
| MDS-MLD | 6 (18) |
| MDS-RAEB | 8 (24) |
| MDS/MPN | 1 (3) |
| AML | 13 (39) |
| t-MN | 3 (9) |
| CLL | 1 (3) |
| None | 1 (3) |
| Cytogenetics | |
| Diploid | 26 (79) |
| Trisomy 8 | 2 (6) |
| -Y | 3 (9) |
| der(1;14) | 1 (3) |
| Not available | 1 (3) |
| Somatic Mutations | |
| ≥1 somatic DDX41 mutation | 21 (64) |
| Other genes | 18 (55) |
MDS-MLD, myelodysplastic syndrome with multilineage dysplasia, MDS-RAEB, myelodysplastic syndrome-refractory anemia with excess blasts, MDS/MPN, myelodysplastic syndrome/myeloproliferative neoplasm, AML, acute myeloid leukemia, t-MN, therapy-related myeloid neoplasm, CLL, chronic lymphocytic leukemia.