Patient and donor characteristics
| Factor . | N = 130 (%) . |
|---|---|
| Age, y, median (range) | 9 (1-48) |
| Male sex | 68 (52) |
| Complementation group | |
| FANCA | 68 |
| FANCC | 20 |
| FANCD1 (BRCA2) | 1 |
| FANCE | 1 |
| FANCF | 2 |
| FANCG | 8 |
| Not available | 30 |
| Diepoxybutane sensitivity,* median (range) | 8.9 (0.4-23.9) |
| Diepoxybutane mosaicism† | |
| Present | 47 |
| Absent | 83 |
| <3 malformations | 65 (50) |
| Transfusions before start of conditioning therapy | |
| None | 34 (26%) |
| ≥1 | 96 (74%) |
| Androgen use before HCT | 49 (38%) |
| G-CSF use before HCT | 62 (48%) |
| Disease state before HCT | |
| Aplastic anemia/early MDS (<5% blasts) | 120 (92%) |
| Late MDS (≥5% blasts)/acute leukemia | 10 (8%) |
| Clonal abnormality before HCT | 37 (28%) |
| Serious infection before HCT | 14 (11%) |
| Estimated glomerular filtration rate before HCT | |
| ≥40 mL/min | 94 (72%) |
| <40 mL/min | 5 (9%) |
| Not available | 22 (17%) |
| Performance score (Lansky or Karnofsky) at the time of HCT | |
| 60%-80% | 16 (14%) |
| 90%-100% | 111 (86%) |
| Hematopoietic stem cell source | |
| HLA-matched unrelated TCD donor BM | 73 (56%) |
| 1-Ag HLA-mismatched unrelated TCD donor BM | 18 (14%) |
| 1-2 Ag HLA-mismatched single UCB | 28 (22%) |
| 1-2 Ag HLA-mismatched double UCB | 3 (3%) |
| 1-Ag HLA-mismatched TCD related donor BM | 8 (6%) |
| Cell doses | |
| Median (range) BM nucleated cells (×107/kg) | 0.7 (0.1-14.2) |
| Median (range) BM CD34+ cells (×106/kg) | 2.5 (0.6-86.6) |
| Median (range) BM CD3+ cells (×105/kg) | 2.6 (0.6-8.6) |
| Median (range) UCB nucleated cells (×107/kg) | 3.5 (0.5-18.4) |
| Median (range) UCB CD34+ cells (×106/kg) | 0.35 (0.05-1.84) |
| Median (range) UCB CD3+ cells (×105/kg) | 110 (30-310) |
| Donor/recipient sex mismatch, no. | 68 (52%) |
| Cytomegalovirus serostatus | |
| Patient positive | 43 (33%) |
| Patient negative/donor positive | 30 (23%) |
| Patient negative/donor negative | 57 (44%) |
| Follow-up, y, median (range) | 7.7 (1.8-18.8) |
| Factor . | N = 130 (%) . |
|---|---|
| Age, y, median (range) | 9 (1-48) |
| Male sex | 68 (52) |
| Complementation group | |
| FANCA | 68 |
| FANCC | 20 |
| FANCD1 (BRCA2) | 1 |
| FANCE | 1 |
| FANCF | 2 |
| FANCG | 8 |
| Not available | 30 |
| Diepoxybutane sensitivity,* median (range) | 8.9 (0.4-23.9) |
| Diepoxybutane mosaicism† | |
| Present | 47 |
| Absent | 83 |
| <3 malformations | 65 (50) |
| Transfusions before start of conditioning therapy | |
| None | 34 (26%) |
| ≥1 | 96 (74%) |
| Androgen use before HCT | 49 (38%) |
| G-CSF use before HCT | 62 (48%) |
| Disease state before HCT | |
| Aplastic anemia/early MDS (<5% blasts) | 120 (92%) |
| Late MDS (≥5% blasts)/acute leukemia | 10 (8%) |
| Clonal abnormality before HCT | 37 (28%) |
| Serious infection before HCT | 14 (11%) |
| Estimated glomerular filtration rate before HCT | |
| ≥40 mL/min | 94 (72%) |
| <40 mL/min | 5 (9%) |
| Not available | 22 (17%) |
| Performance score (Lansky or Karnofsky) at the time of HCT | |
| 60%-80% | 16 (14%) |
| 90%-100% | 111 (86%) |
| Hematopoietic stem cell source | |
| HLA-matched unrelated TCD donor BM | 73 (56%) |
| 1-Ag HLA-mismatched unrelated TCD donor BM | 18 (14%) |
| 1-2 Ag HLA-mismatched single UCB | 28 (22%) |
| 1-2 Ag HLA-mismatched double UCB | 3 (3%) |
| 1-Ag HLA-mismatched TCD related donor BM | 8 (6%) |
| Cell doses | |
| Median (range) BM nucleated cells (×107/kg) | 0.7 (0.1-14.2) |
| Median (range) BM CD34+ cells (×106/kg) | 2.5 (0.6-86.6) |
| Median (range) BM CD3+ cells (×105/kg) | 2.6 (0.6-8.6) |
| Median (range) UCB nucleated cells (×107/kg) | 3.5 (0.5-18.4) |
| Median (range) UCB CD34+ cells (×106/kg) | 0.35 (0.05-1.84) |
| Median (range) UCB CD3+ cells (×105/kg) | 110 (30-310) |
| Donor/recipient sex mismatch, no. | 68 (52%) |
| Cytomegalovirus serostatus | |
| Patient positive | 43 (33%) |
| Patient negative/donor positive | 30 (23%) |
| Patient negative/donor negative | 57 (44%) |
| Follow-up, y, median (range) | 7.7 (1.8-18.8) |