Cord Blood Transplantation Using Myeloablative Conditioning for Pediatric Advanced Myelodysplastic Syndrome in AMeD Syndrome With a Novel ADH5 Variant.

Autor: Morishita Y; Department of Pediatrics, Kochi Medical School, Kochi University, Nangoku, Japan., Hamada M; Department of Virology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan.; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan., Uemura S; Department of Hematology and Oncology, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan., Kikuchi H; Department of Pediatrics, Kochi Medical School, Kochi University, Nangoku, Japan., Hisakawa H; Department of Pediatrics, Kochi Medical School, Kochi University, Nangoku, Japan., Fujikawa T; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Tamura A; Department of Pediatrics, Kobe University Graduate School of Medicine, Kobe, Japan., Okuno Y; Department of Virology, Nagoya City University Graduate School of Medical Sciences, Nagoya, Japan., Wakamatsu M; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan., Muramatsu H; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan., Takahashi Y; Department of Pediatrics, Nagoya University Graduate School of Medicine, Nagoya, Japan., Hasegawa D; Department of Hematology and Oncology, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan., Kosaka Y; Department of Hematology and Oncology, Hyogo Prefectural Kobe Children's Hospital, Kobe, Japan.
Jazyk: angličtina
Zdroj: Pediatric blood & cancer [Pediatr Blood Cancer] 2025 Feb; Vol. 72 (2), pp. e31465. Date of Electronic Publication: 2024 Nov 30.
DOI: 10.1002/pbc.31465
Abstrakt: 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.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
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