Patient characteristics
| . | Total cohort (N = 137) . | Discovery cohort (n = 99) . | Validation cohort (n = 38) . | P . |
|---|---|---|---|---|
| Cohort | ||||
| Japan | 117 (85) | 99 (100) | 18 (47) | |
| United States | 20 (15) | 0 | 20 (53) | |
| Sex | .406 | |||
| Male | 96 | 67 | 29 | |
| Female | 41 | 32 | 9 | |
| Age at diagnosis, mo | 15 (1-160) | 14 (1-160) | 19 (1-50) | .422 |
| Diagnosis | .112 | |||
| JMML | 124 (91) | 87 (88) | 37 (97) | |
| NS/MPD | 13 (9) | 12 (12) | 1 (3) | |
| Canonical RAS pathway mutations | ||||
| PTPN11 | ||||
| Somatic | 46 (34) | 31 (31) | 15 (39) | .421 |
| Germline | 11 (8) | 10 (10) | 1 (3) | .29 |
| NF1 | 13 (9) | 10 (10) | 3 (8) | 1 |
| NRAS | 20 (15) | 13 (13) | 7 (18) | .429 |
| KRAS | 19 (14) | 12 (12) | 7 (18) | .408 |
| CBL | 19 (14) | 17 (17) | 2 (5) | .097 |
| No mutation | 13 (9) | 10 (10) | 3 (8) | 1 |
| WBCs at diagnosis, ×109/L | 29.5 (2.9-563) | 27.6 (2.9-563) | 34.8 (5.0-166) | .208 |
| HbF at diagnosis, % | 15.6 (0-87) | 15 (1-87) | 20 (0-69) | .563 |
| Age-adjusted HbF elevation | .668 | |||
| Elevated | 80 (58) | 54 (55) | 26 (68) | |
| Not elevated | 37 (27) | 27 (27) | 10 (26) | |
| Not evaluated | 20 (15) | 18 (18) | 2 (5) | |
| PLTs at diagnosis, ×109/L | 68.0 (6-730) | 73.0 (6-730) | 65.5 (11-490) | .676 |
| HSCT | 1.17 × 10−3 | |||
| Yes | 90 | 57 | 33 | |
| No | 47 | 42 | 5 | |
| Alive | .557 | |||
| Yes | 88 | 62 | 26 | |
| No | 49 | 37 | 12 | |
| 5-y OS, % | 60.3 (50.5-68.8) | 59.6 (48.2-69.2) | 57.9 (32.9-76.4) | .588 |
| 5-y TFS, % | 16.8 (10.5-24.4) | 22.3 (13.8-32.1) | 0 | .025 |
| 1-y TFS, % | 31.4 (23.5-39.7) | 35.6 (25.7-45.6) | 21.6 (10.2-35.8) | |
| Follow-up period, mo | 33 (0-291) | 42 (0-291) | 28 (2-109) | .095 |
| Methylation subgroup defined by 450K data | ||||
| HM | 40 (40) | |||
| LM | 59 (60) | |||
| Methylation subgroup defined by DREAM data | .241 | |||
| HM | 53 (39) | 35 (35) | 18 (47) | |
| LM | 84 (61) | 64 (65) | 20 (53) |
| . | Total cohort (N = 137) . | Discovery cohort (n = 99) . | Validation cohort (n = 38) . | P . |
|---|---|---|---|---|
| Cohort | ||||
| Japan | 117 (85) | 99 (100) | 18 (47) | |
| United States | 20 (15) | 0 | 20 (53) | |
| Sex | .406 | |||
| Male | 96 | 67 | 29 | |
| Female | 41 | 32 | 9 | |
| Age at diagnosis, mo | 15 (1-160) | 14 (1-160) | 19 (1-50) | .422 |
| Diagnosis | .112 | |||
| JMML | 124 (91) | 87 (88) | 37 (97) | |
| NS/MPD | 13 (9) | 12 (12) | 1 (3) | |
| Canonical RAS pathway mutations | ||||
| PTPN11 | ||||
| Somatic | 46 (34) | 31 (31) | 15 (39) | .421 |
| Germline | 11 (8) | 10 (10) | 1 (3) | .29 |
| NF1 | 13 (9) | 10 (10) | 3 (8) | 1 |
| NRAS | 20 (15) | 13 (13) | 7 (18) | .429 |
| KRAS | 19 (14) | 12 (12) | 7 (18) | .408 |
| CBL | 19 (14) | 17 (17) | 2 (5) | .097 |
| No mutation | 13 (9) | 10 (10) | 3 (8) | 1 |
| WBCs at diagnosis, ×109/L | 29.5 (2.9-563) | 27.6 (2.9-563) | 34.8 (5.0-166) | .208 |
| HbF at diagnosis, % | 15.6 (0-87) | 15 (1-87) | 20 (0-69) | .563 |
| Age-adjusted HbF elevation | .668 | |||
| Elevated | 80 (58) | 54 (55) | 26 (68) | |
| Not elevated | 37 (27) | 27 (27) | 10 (26) | |
| Not evaluated | 20 (15) | 18 (18) | 2 (5) | |
| PLTs at diagnosis, ×109/L | 68.0 (6-730) | 73.0 (6-730) | 65.5 (11-490) | .676 |
| HSCT | 1.17 × 10−3 | |||
| Yes | 90 | 57 | 33 | |
| No | 47 | 42 | 5 | |
| Alive | .557 | |||
| Yes | 88 | 62 | 26 | |
| No | 49 | 37 | 12 | |
| 5-y OS, % | 60.3 (50.5-68.8) | 59.6 (48.2-69.2) | 57.9 (32.9-76.4) | .588 |
| 5-y TFS, % | 16.8 (10.5-24.4) | 22.3 (13.8-32.1) | 0 | .025 |
| 1-y TFS, % | 31.4 (23.5-39.7) | 35.6 (25.7-45.6) | 21.6 (10.2-35.8) | |
| Follow-up period, mo | 33 (0-291) | 42 (0-291) | 28 (2-109) | .095 |
| Methylation subgroup defined by 450K data | ||||
| HM | 40 (40) | |||
| LM | 59 (60) | |||
| Methylation subgroup defined by DREAM data | .241 | |||
| HM | 53 (39) | 35 (35) | 18 (47) | |
| LM | 84 (61) | 64 (65) | 20 (53) |
Data are presented as n, n (%), median (range), or probability (95% CI; for OS and TFS).
HbF, fetal hemoglobin; HSCT, hematopoietic stem cell transplantation; PLT, platelet; WBC, white blood cell.