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Use of Hematopoietic Stem Cell Transplantation to Assess the Origin of Myelodysplastic Syndrome
Published on: October 3, 2018
Cord Blood Transplantation Using Myeloablative Conditioning for Pediatric Advanced Myelodysplastic Syndrome in AMeD
Yusuke Morishita1, Motoharu Hamada2,3, Suguru Uemura4
1Department of Pediatrics, Kochi Medical School, Kochi University, Nangoku, Japan.
Aplastic anemia, mental retardation, and dwarfism syndrome (AMeDS) is a rare inherited bone marrow failure syndrome. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the only possible treatment option for hematological complications in AMeDS; however, there are no reports addressing allo-HSCT for AMeDS. A 6-year-old female diagnosed with AMeDS accompanying myelodysplastic syndrome with increased blast was successfully treated with cord blood transplantation followed by myeloablative conditioning (MAC). A novel ADH5 c.1101-3C>G variant detected in this patient was demonstrated to be a null variant causing several patterns of alternative splicing in ADH5 gene. MAC might be feasible and effective in AMeDS.
Aplastic anemia, mental retardation, and dwarfism syndrome (AMeDS) is a rare inherited bone marrow failure syndrome. Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is the only possible treatment option for hematological complications in AMeDS; however, there are no reports addressing allo-HSCT for AMeDS. A 6-year-old female diagnosed with AMeDS accompanying myelodysplastic syndrome with increased blast was successfully treated with cord blood transplantation followed by myeloablative conditioning (MAC). A novel ADH5 c.1101-3C>G variant detected in this patient was demonstrated to be a null variant causing several patterns of alternative splicing in ADH5 gene. MAC might be feasible and effective in AMeDS.
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