Allogeneic hematopoietic stem cell transplantation (HSCT) is the only curative therapy for the hematologic manifestations of Diamond–Blackfan anemia (DBA). However, data regarding the optimal conditioning regimen for DBA patients are limited. We retrospectively compared the outcomes of DBA patients who underwent HSCT using either myeloablative conditioning (MAC) or reduced-intensity conditioning (RIC) regimens. The patients belonged to a cohort treated at our hospitals between 2000 and 2018. HSCT was performed in 27 of 165 patients (16.4%). The median age at the time of HSCT was 3.6 years. Stem cell sources included bone marrow for 25 patients (HLA-matched sibling donors, n = 5; HLA-mismatched related donors, n = 2; HLA-matched/mismatched unrelated donors, n = 18) or cord blood for 2 patients. MAC or RIC regimens were used in 12 and 15 patients, respectively. Engraftment was successful in all 27 patients who underwent HSCT. Three patients who underwent HSCT using MAC regimens developed sinusoidal obstruction syndrome. The 3-year overall survival (OS) and failure-free survival rates (FFS) post-transplantations were 95.2% and 88.4%, respectively, with no significant differences between MAC and RIC regimens. Our data suggest that HSCTs using RIC regimens are effective and obtain engraftment with excellent OS and FFS for young DBA patients.
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We thank all medical and co-medical staffs who participated in the treatment of DBA patients in Japan. This work was supported by a research grant from the Ministry of Health, Labor and Welfare of Japan (Research on Measures for Intractable Diseases) (19FC1005) and by Grant-in-aids for scientific research from the Ministry of Education, Culture, Sports, Science and Technology of Japan (KAKENHI: 17K10093, 18K07868), from the Japan Agency for Medical Research and Development (AMED) (JP19cm0106501 and 15H05909), from the Japan Society for the Promotion of Science (JSPS) (JP19H05656), and from the Ministry of Education, Culture, Sports, Science and Technology (hp160219).
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Koyamaishi, S., Kamio, T., Kobayashi, A. et al. Reduced-intensity conditioning is effective for hematopoietic stem cell transplantation in young pediatric patients with Diamond–Blackfan anemia. Bone Marrow Transplant (2020). https://doi.org/10.1038/s41409-020-01056-1