Effect of genetic mutations on outcomes of stem cell transplantation in children with hemophagocytic lymphohistiocytosis

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dc.contributor.authorOzturk, Gulyuz
dc.contributor.authorYesilipek, Mehmet Akif
dc.contributor.authorAkcay, Arzu
dc.contributor.authorUygun, Vedat
dc.contributor.authorOzek, Gulcihan
dc.contributor.authorKarasu, Gulsun
dc.contributor.authorYilmaz, Ebru
dc.date.accessioned2026-04-04T13:34:42Z
dc.date.available2026-04-04T13:34:42Z
dc.date.issued2025
dc.departmentİnönü Üniversitesi
dc.description.abstractPrimary 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.
dc.description.sponsorshipTurkish Paediatric Bone Marrow Transplantation Study Group
dc.description.sponsorshipThis study was conducted on behalf of the Turkish Paediatric Bone Marrow Transplantation-Study Group. All authors are part of the Turkish Paediatric Bone Marrow Transplantation Study Group. We acknowledge the supportof Enago Crimson Interactive LLC Experts for native English editing.
dc.identifier.doi10.1038/s41409-025-02592-4
dc.identifier.endpage1019
dc.identifier.issn0268-3369
dc.identifier.issn1476-5365
dc.identifier.issue7
dc.identifier.orcid0000-0002-0476-5452
dc.identifier.orcid0000-0001-7111-4214
dc.identifier.orcid0000-0003-0841-1667
dc.identifier.orcid0000-0002-8446-0834
dc.identifier.pmid40263637
dc.identifier.scopus2-s2.0-105003182111
dc.identifier.scopusqualityQ1
dc.identifier.startpage1009
dc.identifier.urihttps://doi.org/10.1038/s41409-025-02592-4
dc.identifier.urihttps://hdl.handle.net/11616/109347
dc.identifier.volume60
dc.identifier.wosWOS:001472581400001
dc.identifier.wosqualityQ1
dc.indekslendigikaynakWeb of Science
dc.indekslendigikaynakScopus
dc.indekslendigikaynakPubMed
dc.language.isoen
dc.publisherSpringernature
dc.relation.ispartofBone Marrow Transplantation
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanı
dc.rightsinfo:eu-repo/semantics/openAccess
dc.snmzKA_WOS_20250329
dc.subjectXiap Deficiency
dc.subjectDiagnosis
dc.subjectFerritin
dc.subjectSurvival
dc.titleEffect of genetic mutations on outcomes of stem cell transplantation in children with hemophagocytic lymphohistiocytosis
dc.typeArticle

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