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Myelodysplastic syndrome (MDS) in childhood is a rare disorder and hematopoietic stem cell transplantation (HSCT) is the only known curative treatment option. However, there exist few reports regarding the outcome of transplantation for children with various types of MDS.

We reviewed retrospectively 14 pediatric MDS patients who received HSCT at a single center. Median age at time of HSCT of the patients was 4.3 years and disease duration from diagnosis to transplantation ranged from 3 to 36 months with a median of 10 months. Five patients had primary and one had secondary MDS. Four patients had juvenile myelomonocytic leukemia (JMML) and 4 patients had myelodysplastic related acute myeloid leukemia (MDR-AML). Diagnostic cytogenetics included monosomy 7 (n=2), trisomy 8 (n=3), KRAS (n=1) or normal/other (n=8). Patients received a median of 6.8x10⁶ CD34+cells/kg. Eight patients received a bone marrow, 5 had peripheral blood graft and one an unrelated cord blood (UCB) transplant; five patients were transplanted from a matched sibling donor (MSD), 5 from a matched unrelated donor (MUD) and 4 from haploidentical donor. Conditioning regimen consisted of busulfan/cyclophosphamide in MSD/MUD patients. The patients transplanted from MUD and UCB also received antithymocyte globulin (ATG) for 3–5 days pretransplantation. Haploidentical transplantation was performed with RIC regimen and TCRαβ /CD3 depletion.

These data demonstrate that especially children with primer MDS may achieve encouraging OS and RFS following HSCT. Relapse remains the main cause of treatment failure in children with JMML given HSCT. All children with MDS should be referred for allogeneic HSCT soon after diagnosis.