Details on patient characteristics and transplantation procedure
| Item and specification . | n . | % . |
|---|---|---|
| Patients | 70 | 100 |
| Sex | ||
| Male | 44 | 63 |
| Female | 26 | 37 |
| Malformations | ||
| No | 20 | 34 |
| Yes | 38 | 66 |
| Facial dysmorphia | 24 | |
| Skeletal malformations | 13 | |
| Heart defects | 18 | |
| Renal/urogenital malformations | 7 | |
| Other | 10 | |
| Missing | 12 | |
| Molecular genetics | ||
| RPS19 | 18 | 40 |
| RPL5 | 6 | 13 |
| RPS26 | 5 | 11 |
| RPL11 | 3 | 7 |
| RPL35A | 1 | 2 |
| RPS17 | 1 | 2 |
| Negative | 11 | 24 |
| Missing | 25 | |
| Steroid trial | ||
| Yes | 52 | 96 |
| No | 2 | 4 |
| Missing | 16 | |
| Number of transfusions | ||
| <20 | 10 | 19 |
| 20-50 | 22 | 41 |
| >50 | 22 | 41 |
| Missing | 16 | |
| Chelation | ||
| Yes | 41 | 75 |
| No | 14 | 26 |
| Missing | 15 | |
| Ferritin prior to HSCT | ||
| <1000 µg/L | 12 | 24 |
| ≥1000 µg/L | 39 | 77 |
| Missing | 19 | |
| Indication for HSCT | ||
| Transfusion dependency | 56 | 95 |
| + Additional cytopenia | 12 | |
| + Deferoxamine toxicity | 2 | |
| + Alloimmunization | 1 | |
| Steroid dependency | 1 | 2 |
| Steroid side effects | 1 | 2 |
| Secondary MDS | 1 | 2 |
| Missing | 11 | |
| Year of HSCT | ||
| <2000 | 19 | 27 |
| ≥2000 | 51 | 73 |
| Age at HSCT, y* | ||
| <10 | 52 | 74 |
| 0-18 | 18 | 26 |
| Donor | ||
| MSD | 45 | 64 |
| MUD (10/10) | 12 | 17 |
| UD (9/10) | 7 | 10 |
| UD other (HLA 8/8, 8/10, 6/6, and ND) | 6 | 9 |
| Stem cell source | ||
| BM | 56 | 80 |
| PBSCs | 7 | 10 |
| CB (siblings) | 7 | 10 |
| Conditioning regimen | ||
| Bu/cyclophosphamide | 35 | 50 |
| Bu/other | 13 | 19 |
| Treo/thiotepa/fludarabine | 13 | 19 |
| TBI based | 3 | 4 |
| Other | 6 | 9 |
| ATG/ALG | ||
| Yes | 57 | 81 |
| No | 13 | 19 |
| GVHD prophylaxis | ||
| MSD: ATG/CSA/MTX (MMF†) | 22 | 49 |
| ATG/CSA | 11 | 24 |
| CSA/ MTX (MMF†) | 7 | 7 |
| CSA | 4 | 16 |
| MTX long course | 1 | 1 |
| UD: ATG/CSA/MTX‡ | 18 | 72 |
| ATG/CSA | 4 | 16 |
| CSA/MTX/anti-rIL-2 | 1 | 4 |
| None§ | 2 | 8 |
| Item and specification . | n . | % . |
|---|---|---|
| Patients | 70 | 100 |
| Sex | ||
| Male | 44 | 63 |
| Female | 26 | 37 |
| Malformations | ||
| No | 20 | 34 |
| Yes | 38 | 66 |
| Facial dysmorphia | 24 | |
| Skeletal malformations | 13 | |
| Heart defects | 18 | |
| Renal/urogenital malformations | 7 | |
| Other | 10 | |
| Missing | 12 | |
| Molecular genetics | ||
| RPS19 | 18 | 40 |
| RPL5 | 6 | 13 |
| RPS26 | 5 | 11 |
| RPL11 | 3 | 7 |
| RPL35A | 1 | 2 |
| RPS17 | 1 | 2 |
| Negative | 11 | 24 |
| Missing | 25 | |
| Steroid trial | ||
| Yes | 52 | 96 |
| No | 2 | 4 |
| Missing | 16 | |
| Number of transfusions | ||
| <20 | 10 | 19 |
| 20-50 | 22 | 41 |
| >50 | 22 | 41 |
| Missing | 16 | |
| Chelation | ||
| Yes | 41 | 75 |
| No | 14 | 26 |
| Missing | 15 | |
| Ferritin prior to HSCT | ||
| <1000 µg/L | 12 | 24 |
| ≥1000 µg/L | 39 | 77 |
| Missing | 19 | |
| Indication for HSCT | ||
| Transfusion dependency | 56 | 95 |
| + Additional cytopenia | 12 | |
| + Deferoxamine toxicity | 2 | |
| + Alloimmunization | 1 | |
| Steroid dependency | 1 | 2 |
| Steroid side effects | 1 | 2 |
| Secondary MDS | 1 | 2 |
| Missing | 11 | |
| Year of HSCT | ||
| <2000 | 19 | 27 |
| ≥2000 | 51 | 73 |
| Age at HSCT, y* | ||
| <10 | 52 | 74 |
| 0-18 | 18 | 26 |
| Donor | ||
| MSD | 45 | 64 |
| MUD (10/10) | 12 | 17 |
| UD (9/10) | 7 | 10 |
| UD other (HLA 8/8, 8/10, 6/6, and ND) | 6 | 9 |
| Stem cell source | ||
| BM | 56 | 80 |
| PBSCs | 7 | 10 |
| CB (siblings) | 7 | 10 |
| Conditioning regimen | ||
| Bu/cyclophosphamide | 35 | 50 |
| Bu/other | 13 | 19 |
| Treo/thiotepa/fludarabine | 13 | 19 |
| TBI based | 3 | 4 |
| Other | 6 | 9 |
| ATG/ALG | ||
| Yes | 57 | 81 |
| No | 13 | 19 |
| GVHD prophylaxis | ||
| MSD: ATG/CSA/MTX (MMF†) | 22 | 49 |
| ATG/CSA | 11 | 24 |
| CSA/ MTX (MMF†) | 7 | 7 |
| CSA | 4 | 16 |
| MTX long course | 1 | 1 |
| UD: ATG/CSA/MTX‡ | 18 | 72 |
| ATG/CSA | 4 | 16 |
| CSA/MTX/anti-rIL-2 | 1 | 4 |
| None§ | 2 | 8 |
Anti-rIL2, anti-interleukin-2 receptor antibody; ATG/ALG, antithymocyte/lymphocyte globulin; BM, bone marrow; Bu, busulfan; CB, cord blood; CSA, cyclosporine A; Cy, cyclophosphamide; MMF, mycophenolate mofetil; MTX, methotrexate; MUD, matched unrelated donor; ND, no data; PBSCs, peripheral blood stem cells; TBI, total body irradiation; Treo, treosulfan.
Median 5.5 years (range, 0.9-17.3 years).
MTX was replaced by MMF in 1 patient.
Including 1 patient receiving a CD3/CD19-depleted graft.
Including 1 patient each with a CD3/CD19-depleted and CD34+ selected graft.