Patient characteristics and outcomes
| Patient characteristics . | n . | % . |
|---|---|---|
| 62 | ||
| Primary ML-DS | ||
| Age (mo) | 23.4 (7.3-63.8)∗ | |
| Male/female | 1.29 (35/27) | |
| Constitutional trisomy 21 | 57 | 92 |
| Trisomy 21 mosaicism | 5 | 8 |
| History of transient abnormal myelopoiesis | ||
| Yes | 19 | 31 |
| No | 30 | 48 |
| Not available | 13 | 21 |
| WBC (×109/L) | 6 (2-88)∗ | |
| Extramedullary involvement | ||
| CNS | 1 | 2 |
| Bone | 1 | 2 |
| Liver/spleen | 1 | 2 |
| Blast cytogenetics‡ | ||
| Structurally complex, not monosomal | 18 | 29 |
| Structurally complex and monosomal | 4 | 6 |
| Monosomal, not structurally complex | 2 | 3 |
| Other structural abnormalities | 7 | 11 |
| Acquired trisomy (other than chromosome 21) | 6 | 10 |
| No acquired aberration | 8 | 13 |
| Not available | 17 | 27 |
| GATA1 mutation | ||
| Present | 36 | 58 |
| Absent/not available | 26 | 42 |
| Treatment included at least 1 course of high-dose cytarabine | 51 | 82 |
| Cumulative anthracycline dose (doxorubicin equivalents, mg/m2) | 195† | |
| Doses of intrathecal chemotherapy | 2† | |
| Relapsed/refractory ML-DS | ||
| Refractory | 9 | 15 |
| Relapse | 53 | 85 |
| Time from diagnosis of primary ML-DS to first relapse (mo) | 6.8 (1-45)∗ | |
| Time from first remission to relapse (mo) | 5.5 (0-43)∗ | |
| Blast percentage in the bone marrow | 23.5† | |
| Site of relapse | ||
| Bone marrow | 61 | 98 |
| Extramedullary§ | 1 | 2 |
| Number of relapse events | ||
| One | 42 | 68 |
| More than 1 | 11 | 18 |
| Second remission after treatment for first relapse | ||
| No | 34 | 55 |
| Yes | 28 | 45 |
| Treatment | ||
| Chemotherapy alone | 33 | 53 |
| Chemotherapy and HSCT | 29 | 47 |
| Outcomes | ||
| Alive | 14 | 23 |
| in remission | 14 | 23 |
| time interval since first relapse (mo) | 56.1 (2.6-145)∗ | |
| Died | 48 | 77 |
| Likely reason for death | ||
| progressive disease | 42 | 68 |
| treatment-related mortality | 6 | 10 |
| time interval since first relapse to death (mo) | 5.1 (0.4-41)∗ | |
| 3-year overall survival (%) | 22.1 ± 5.4 (95% CI, 13.7-35.8) | |
| 3-year event-free survival (%) | 20.9 ± 5.3 (95% CI, 12.7-34.3) | |
| 3-year cumulative incidence of relapse (%) | 79.1 ± 5.3 (95% CI, 65.7-87.3) | |
| Patient characteristics . | n . | % . |
|---|---|---|
| 62 | ||
| Primary ML-DS | ||
| Age (mo) | 23.4 (7.3-63.8)∗ | |
| Male/female | 1.29 (35/27) | |
| Constitutional trisomy 21 | 57 | 92 |
| Trisomy 21 mosaicism | 5 | 8 |
| History of transient abnormal myelopoiesis | ||
| Yes | 19 | 31 |
| No | 30 | 48 |
| Not available | 13 | 21 |
| WBC (×109/L) | 6 (2-88)∗ | |
| Extramedullary involvement | ||
| CNS | 1 | 2 |
| Bone | 1 | 2 |
| Liver/spleen | 1 | 2 |
| Blast cytogenetics‡ | ||
| Structurally complex, not monosomal | 18 | 29 |
| Structurally complex and monosomal | 4 | 6 |
| Monosomal, not structurally complex | 2 | 3 |
| Other structural abnormalities | 7 | 11 |
| Acquired trisomy (other than chromosome 21) | 6 | 10 |
| No acquired aberration | 8 | 13 |
| Not available | 17 | 27 |
| GATA1 mutation | ||
| Present | 36 | 58 |
| Absent/not available | 26 | 42 |
| Treatment included at least 1 course of high-dose cytarabine | 51 | 82 |
| Cumulative anthracycline dose (doxorubicin equivalents, mg/m2) | 195† | |
| Doses of intrathecal chemotherapy | 2† | |
| Relapsed/refractory ML-DS | ||
| Refractory | 9 | 15 |
| Relapse | 53 | 85 |
| Time from diagnosis of primary ML-DS to first relapse (mo) | 6.8 (1-45)∗ | |
| Time from first remission to relapse (mo) | 5.5 (0-43)∗ | |
| Blast percentage in the bone marrow | 23.5† | |
| Site of relapse | ||
| Bone marrow | 61 | 98 |
| Extramedullary§ | 1 | 2 |
| Number of relapse events | ||
| One | 42 | 68 |
| More than 1 | 11 | 18 |
| Second remission after treatment for first relapse | ||
| No | 34 | 55 |
| Yes | 28 | 45 |
| Treatment | ||
| Chemotherapy alone | 33 | 53 |
| Chemotherapy and HSCT | 29 | 47 |
| Outcomes | ||
| Alive | 14 | 23 |
| in remission | 14 | 23 |
| time interval since first relapse (mo) | 56.1 (2.6-145)∗ | |
| Died | 48 | 77 |
| Likely reason for death | ||
| progressive disease | 42 | 68 |
| treatment-related mortality | 6 | 10 |
| time interval since first relapse to death (mo) | 5.1 (0.4-41)∗ | |
| 3-year overall survival (%) | 22.1 ± 5.4 (95% CI, 13.7-35.8) | |
| 3-year event-free survival (%) | 20.9 ± 5.3 (95% CI, 12.7-34.3) | |
| 3-year cumulative incidence of relapse (%) | 79.1 ± 5.3 (95% CI, 65.7-87.3) | |