ArticleBone marrow transplantation2025
Effect of genetic mutations on outcomes of stem cell transplantation in children with hemophagocytic lymphohistiocytosis.
Article in Bone marrow transplantation, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
3 citing papers in PubMed.
- Primary Hemophagocytic Lymphohistiocytosis: A Severe Immune Dysregulatory Disease with Various Genotypic Features and Outcomes: A Cross-Sectional Study from a Tertiary Pediatric CenterTurkish journal of haematology : official journal of Turkish Society of Haematology · 2026Article
- Hemophagocytic lymphohistiocytosis caused by dual mutations in UNC13D and STX11 induced by HHV-7: a case report and review of the literature.Annals of hematology · 2025Review
- Case Report:Frontiers in immunology · 2025Article
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Authors and funding
32 authors.
Funding
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Abstract
Primary hemophagocytic lymphohistiocytosis (p-HLH) can be cured with allogeneic haematopoietic stem cell transplantation (allo-HSCT). It remains unclear whether HSCT outcomes are affected by the presence of different genetic mutations. We used data obtained from children who underwent allo-HSCT for HLH to examine the effects of genetic mutations on HSCT outcomes. Data from 153 paediatric patients in 18 paediatric stem cell centres were retrospectively evaluated. Patients were divided into four groups: 1) with PRF1 mutation (n = 46), 2) with UNC13D mutation (n = 38), 3) with STX11/STXBP2 mutation (n = 25) and 4) with Griscelli syndrome type 2/ Chediak-Higashi syndrome (GS2/CHS) diagnosis (n = 44). Statistical analysis showed no difference between the subgroups in terms of engraftment, VOD, acute GVHD, chronic GVHD, TRM, OS and EFS rates. The most important factor affecting OS and EFS in all genetic subgroups was remission status before HSCT. The 5-year EFS values for children with mutations in PRF1, UNC13D, STX11/STXBP2 and GS2/CHS were 71%, 66.6%, 74% and 66.7, respectively (log-rank >0.05). However, with prospective studies covering more patients, and creating different genetic subgroups by performing more detailed genetic analyses, special approaches for different genetic subgroups can be revealed in the future.
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