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

Basit Öğe Kaydı
dc.authorid0000-0002-4514-8637
dc.authorid0000-0003-0841-1667
dc.authorid0000-0003-3257-7798
dc.authorid0000-0001-7111-4214
dc.authorid0000-0002-8446-0834
dc.authorid0000-0002-7666-8731
dc.authorid0000-0003-3454-9870
dc.authorid0000-0001-8338-2101
dc.authorid0000-0002-2691-4826
dc.authorid0000-0001-6026-4786
dc.authorid0000-0002-7678-5524
dc.authorid0000-0002-6846-6048
dc.authorid0000-0002-5585-683X
dc.authorid0000-0002-0476-5452
dc.authorid0000-0002-4480-7784
dc.contributor.authorÖztürk, Gülyüz
dc.contributor.authorYeşilipek, Mehmet Akif
dc.contributor.authorAkçay, Arzu
dc.contributor.authorUygun, Vedat
dc.contributor.authorÖzek, Gülcihan
dc.contributor.authorKarasu, Gülsün
dc.contributor.authorYılmaz, Ebru
dc.contributor.authorDemir Yenigürbüz, Fatma
dc.contributor.authorÖztürkmen, Seda
dc.contributor.authorAksoylar, Serap
dc.contributor.authorOk Bozkaya, İkbal
dc.contributor.authorYalçın, Koray
dc.contributor.authorAdaklı Aksoy, Başak
dc.contributor.authorÜnal, Ekrem
dc.contributor.authorAkıncı, Burcu
dc.contributor.authorDaloğlu, Hayriye
dc.contributor.authorKaragün, Barbaros Şahin
dc.contributor.authorKansoy, Savaş
dc.contributor.authorÖzbek, Namık
dc.contributor.authorİnce, Elif
dc.contributor.authorDemir, Hacı Ahmet
dc.contributor.authorGündoğdu, Müge
dc.contributor.authorMalbora, Barış
dc.contributor.authorKarakükçü, Musa
dc.contributor.authorElli, Murat
dc.contributor.authorAkyay, Arzu
dc.contributor.authorGüneş, Adalet Meral
dc.contributor.authorAkbayram, Sinan
dc.contributor.authorSarper, Nazan
dc.contributor.authorCastello, Buket Erer Del
dc.contributor.authorHazar, Volkan
dc.contributor.authorAntmen, Bülent
dc.date.accessioned2025-07-28T09:39:05Z
dc.date.available2025-07-28T09:39:05Z
dc.date.issued2025
dc.departmentFakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalı
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.identifier.citationÖztürk, G., Yeşilipek, M. A., Akçay, A., Uygun, V., Özek, G., Karasu, G., ... & Antmen, B. (2025). Effect of genetic mutations on outcomes of stem cell transplantation in children with hemophagocytic lymphohistiocytosis. Bone Marrow Transplantation, 60(7), 1009-1019. 10.1038/s41409-025-02592-4
dc.identifier.doi10.1038/s41409-025-02592-4
dc.identifier.endpage1019
dc.identifier.issn0268-3369
dc.identifier.issn1476-5365
dc.identifier.issue7
dc.identifier.pmid40263637
dc.identifier.scopus2-s2.0-105003182111
dc.identifier.scopusqualityQ1
dc.identifier.startpage1009
dc.identifier.urihttps://hdl.handle.net/20.500.12939/5801
dc.identifier.volume60
dc.identifier.wosWOS:001472581400001
dc.identifier.wosqualityQ1
dc.indekslendigikaynakPubMed
dc.indekslendigikaynakScopus
dc.indekslendigikaynakWeb of Science
dc.institutionauthorAdaklı Aksoy, Başak
dc.institutionauthorid0000-0001-8338-2101
dc.language.isoen
dc.relation.ispartofBone Marrow Transplantation
dc.relation.publicationcategoryDiğer
dc.rightsinfo:eu-repo/semantics/closedAccess
dc.subjectAdolescent
dc.subjectChild
dc.subjectPreschool
dc.subjectFemale
dc.subjectHematopoietic Stem Cell Transplantation
dc.subjectHumans
dc.subjectInfant
dc.subjectLymphohistiocytosis
dc.subjectHemophagocytic
dc.subjectMale
dc.subjectMembrane Proteins
dc.subjectMutation
dc.subjectPerforin
dc.subjectRetrospective Studies
dc.subjectTreatment Outcome
dc.titleEffect of genetic mutations on outcomes of stem cell transplantation in children with hemophagocytic lymphohistiocytosis
dc.typeOther

Dosyalar

Lisans paketi
Listeleniyor 1 - 1 / 1
[ X ]
İsim:
license.txt
Boyut:
1.17 KB
Biçim:
Item-specific license agreed upon to submission
Açıklama:
İndir

Koleksiyon

PubMed İndeksli Yayınlar Koleksiyonu
Dahili Tıp Bilimleri Bölümü Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu
WoS İndeksli Yayınlar Koleksiyonu