Table 1.
Patient characteristics and transplantation procedure.
| Item | Specification | At diagnosis/prior to HSCT | ||
|---|---|---|---|---|
| N | % | |||
| Patients | 65 | 100 | ||
| Gender | Male | 34 | 52 | |
| Female | 31 | 48 | ||
| Age at diagnosis of MDS | Years, median(range) | 12.8 (4.4–18.6) | ||
| GATA2 Type of mutation | Truncating | 43 | 66 | |
| Missense | 14 | 22 | ||
| Non-Coding Intron 4 | 4 | 6 | ||
| Synonymous | 3 | 5 | ||
| Whole gene deletion | 1 | 2 | ||
| MDS subtype at diagnosis | RCC | 36 | 55 | |
| MDS-EB | 22 | 34 | ||
| MDS-EBt/ MDR-AML | 6 /1 | 11 | ||
| Karyotype | Monosomy 7 | 44 | 68 | |
| Der (1;7) | 4 | 6 | ||
| Trisomy 8 | 4 | 6 | ||
| Normala | 12 | 19 | ||
| Other | 1 | 1 | ||
| Non-Hematological features | Any | 40 | 71 | |
| Immunedeficiencyb | 24 | |||
| Lymphedema/ hydrocele | 13 | |||
| Deafness/hearing impairment | 8 | |||
| Urogenital malformations | 10 | |||
| Neurocognitive/ behavioral problems | 10 | |||
| Highest MDS subtype | ||||
| (prior to HSCT) | RCC | 27 | 42 | |
| MDS-EB | 23 | 35 | ||
| MDS-EBt/ MDR-AML | 10/5 | 23 | ||
| At HSCT | ||||
| Age at HSCT | Years, median (range) | 13.5 (4.6-19.9) | ||
| Interval MDS to HSCT | Months, median (range) | 5.6 (1.4 – 67) | ||
| Therapy prior to 1st HSCT | No therapy | 55 | 85 | |
| AML-type | 5 | 8 | ||
| other | 5 | 8 | ||
| BM blasts at HSCT | < 5% | 34 | 56 | |
| 5–19% | 19 | 31 | ||
| ≥ 20% | 8 | 13 | ||
| No data | 4 | |||
| HSCT procedure | ||||
| Donor | MSD | 17 | 26 | |
| MUD (10/10)/(9/10) | 24/6 | 46 | ||
| UD (6/6)/(5/6)/(8/10)c/ incomplete typing | 1/2/6/1 | 15 | ||
| MMFD | 8 | 12 | ||
| Stem cell source | BM | 37 | 57 | |
| PBSC | 19 | 29 | ||
| PBSC (T-cell depleted) | 8 | 12 | ||
| CB | 1 | 2 | ||
| Conditioning regimen | Busulfan- based | 35 | 54 | |
| Treosulfan-based | 21 | 32 | ||
| TBI-based | 5 | 8 | ||
| Other | 4 | 6 | ||
| GvHD prophylaxis | MSD (17) | CSA | 7 | |
| CSA/MTX | 7 | |||
| ATG/CSA/MTX | 3 | |||
| (M)UD (40) | ATGd/CSA/MTXe | 36 | ||
| ATG/CSA | 2 | |||
| ATG/tacrolimus | 1 | |||
| CSA/MTX | 1 | |||
| MMFD (8) | ATG | 6 | ||
| ATG/MMF | 1 | |||
| Muromonab (OKT3) | 1 | |||
HSCT Hematopoietic stem cell transplantation, MDS Myelodysplastic syndrome, RCC Refractory cytopenia of childhood, MDS-EB MDS with excess blasts, MDS-EBt MDS with excess blasts in transformation, MDR-AML MDS-related acute myeloid leukemia, MSD matched sibling donor, MUD matched unrelated donor, UD unrelated donor, MMFD mismatched family donor, BM bone marrow, PBSC peripheral blood stem cells, CB cord blood; TBI total body irradiation, ATG/ALG anti-thymocyte/lymphocyte globuline, CSA cyclosporine, MTX methotrexate, MMF Mycophenolate mofetil.
aIncluding two patients without sufficient metaphases and exclusion of monosomy 7 and trisomy 8 by fluorescence in situ hybridization (FISH).
bDefined as frequent infections and/or laboratory evidence of immune deficiency.
cIncluding one patient with an 8/10 HLA matched sibling donor.
dIncluding one patient with alemtuzumab instead of ATG as serotherapy.
eIncluding two patients with MMF instead of MTX.