Table 1.
Patient characteristics
| Variables | DDX41-WT | DDX41-mutated | Total |
|---|---|---|---|
| n (%) | 8736 (96.2%) | 346 (3.8%) | 9082 (100%) |
| Sporadic | 8730 | 302 | 9032 |
| Familial (proband) | 6 (6) | 44 (36) | 50 (42) |
| Age (median, range) | 65, 1-94 | 68, 15-94 | 65, 1-94 |
| Sex (male/female/unknown) | 3666/2324/2746 | 274/72/0 | 3940/2396/2746 |
| OS | |||
| n of informative cases | 2159 | 201 | 2360 |
| Median observation, range | 1.2 y, 0-40.4 | 1.3 y, 0-22.7 | 1.2 y, 0-40.4 |
| Leukemic progression | |||
| n of informative cases | 2128 | 174 | 2302 |
| Median observation, range | 1.6 y, 0.01-32.3 | 1.7 y, 0.03-22.7 | 1.6 y, 0.01-32.3 |
| Diagnosis | |||
| MDS | 4146 | 201 | 4347 |
| AML | 2704 | 136 | 2840 |
| MDS/MPN | 658 | 8 | 666 |
| MPN | 1228 | 1 | 1229 |
| Country | |||
| Japan | 4289 | 172 | 4461 |
| United States | 1767 | 105 | 1872 |
| United Kingdom | 1669 | 36 | 1705 |
| Italy | 240 | 13 | 253 |
| Thailand | 67 | 6 | 73 |
| The Netherlands | 36 | 2 | 38 |
| Germany | 668 | 12 | 680 |
| Status at sampling | |||
| At diagnosis | 6961 | 275 | 7236 |
| Before treatment | 430 | 32 | 462 |
| After treatment | 877 | 39 | 916 |
| Unknown | 468 | 0 | 468 |
| Germ line DNA (%)∗ | |||
| Available | 1003 (20.4%) | 36 (20.9%) | 1039 (23.3%) |
| Not available | 3286 (79.6%) | 136 (79.1%) | 3422 (76.7%) |
| Treatment | |||
| Hypomethylating agents (HMA) | 771 | 108 | 879 |
| Transplantation | 1424 | 94 | 1518 |
| Chemotherapy | 927 | 73 | 1000 |
∗
Number of Japanese cases.