Outcomes of Allogeneic Hematopoietic Stem Cell Transplantation for Genetic Rare Diseases in Children

Lee, Woo Jin; Kim, Gun; Choi, Joon Sik; Baek, Hee Jo; Kook, Hoon

Abstract

BACKGROUND
Hematopoietic stem cell transplantation (HSCT) has been established as an important curative method in genetic rare diseases in children. However, adverse effects have been obstacles for successful outcomes. This study aims to review the transplant outcomes of genetic rare diseases over the last 2 decades, to analyze the prognostic factors that may affect outcome, and to suggest future perspective of HSCT in these diseases.
METHODS
Seventeen patients younger than 18 years who were transplanted at Department of Pediatrics, Chonnam National University Hospital and Chonnam National University Hwasun Hospital from 1996 to 2015 were retrospectively reviewed. Outcomes were analyzed by donor source, intensity of conditioning [myeloablative conditioning (MAC) vs. reduced-intensity conditioning (RIC)], and disease type.
RESULTS
The 5-year Kaplan-Meier overall survival (OS), and event-free survival (EFS) was 64.7±14.3% and 52.9±12.9%, respectively. Among subgroups, the 5-year OS was 61.5±15.8% after RIC as compared to 28.6±17.1% after MAC (P=0.27). The 5-year EFS was 60.0±25.0% after matched sibling donor transplants, 62.5±20.4% after mismatched related/unrelated bone marrow/peripheral blood stem cell transplants, and 28.6±17.1% after unrelated umbilical cord blood transplants, respectively. The 5-year OS according to disease type was as follows: 60.0±21.9% for Fanconi anemia, 50.0±25.0% for familial hemophagocytic lymphohisticytosis. All patients with primary immunodeficiency survived, but none with adrenoleukodystrophy.
CONCLUSION
Although definitive conclusions cannot be drawn due to the limited number of cases, RIC may be preferred in select, genetic rare diseases. Better strategies are required to improve outcomes after cord blood transplantation. Moreover, special attention should be given to minimize late complications in children.