Disease-specific hematopoietic stem cell transplantation in children with inherited bone marrow failure syndromes.

Abstract

Hematopoietic stem cell transplantation (HSCT) using an optimized conditioning regimen is essential for the long-term survival of patients with inherited bone marrow failure syndromes (IBMFS). We report HSCT in 24 children with Fanconi anemia (FA, n=12), Diamond-Blackfan anemia (DBA, n=7), and dyskeratosis congenita (DC, n=5) from a single HSCT center. The graft source was peripheral blood stem cells (n=19) or cord blood stem cells (n=5). FA and DC patients received reduced-intensity conditioning, while DBA patients had myeloablative conditioning. The median numbers of infused mononuclear cells and CD34+ cells were 14.20×108/kg and 4.3×106/kg, respectively. The median time for neutrophil and platelet recovery was 12 and 18days, respectively. Complete donor engraftment was achieved in 23 of 24 patients. There was one primary graft failure. During a median follow-up of 27.5months (range, 2-130months), the overall survival in all patients was 95.8%. The incidence of grade II-III acute graft versus host disease (GvHD) and chronic GvHD was 29.2% and 16.7%, respectively. We conclude that HSCT can be a curative option for patients with IBMFS. Modification of the conditioning regimen based on the type of disease may lead to encouraging long-term outcomes.