Allogeneic hematopoietic stem cell transplantation for a pediatric case of myelodysplastic syndrome with germline DDX41 mutation
Tiantian Hu, Wenli Zhang, Teng Zhang, Man Wang, Zongxuan Huang, Yanling Tao · 2026
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Description
Tiantian Hu and co-authors describe a 2026 case of a child with a rare inherited risk for blood cancer. An eight-year-old girl had high-risk myelodysplastic syndrome, a bone marrow disorder, linked to a germline change in the DDX41 gene. Such gene changes usually cause disease much later in life, so cases in children are scarce.
Care began with azacitidine and venetoclax, which brought the marrow into remission. She then received a stem cell transplant from an unrelated cord blood donor. Complications included a viral brain infection and graft-versus-host disease of skin and gut, both controlled. At 13 months she stayed in full remission, and the authors stress screening donors for the same gene change.
Catalog record
| CREATOR | Tiantian Hu, Wenli Zhang, Teng Zhang, Man Wang, Zongxuan Huang, Yanling Tao |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 33543 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |