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

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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Publication Details

Journal
Bone Marrow Transplantation
Published
2025-04-22
DOI
https://doi.org/10.1038/s41409-025-02592-4
Citations
3
Primary Topic
Autoimmune and Inflammatory Disorders Research
Type
article
Field-Weighted Citation Impact
5.31
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article

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

Hayriye Daloğlu, Vedat Uygun, Elif İnce, Sinan Akbayram et al.
3 citations
Bone Marrow Transplantation
Autoimmune and Inflammatory Disorders Research
5.31
article

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

Hayriye Daloğlu, Vedat Uygun, Elif İnce, Sinan Akbayram, Barış Malbora, Volkan Hazar, Seda Öztürkmen, Gülyüz Öztürk, Serap Aksoylar, Başak Adaklı Aksoy, İkbal Ok Bozkaya, Ekrem Ünal, M. Akif Yeşilipek, Barbaros Şahin Karagün, Murat Elli, Buket Erer Del Castello, Müge Gündoğdu, Fatma Demir Yenigürbüz, Burcu Akıncı, Nazan Sarper, Koray Yalçın, Bülent Antmen, Musa Karakükçü, Savaş Kansoy, Gülcihan Özek, Arzu Akyay, Gülsün Karasu, Adalet Meral Güneş, Namık Yaşar Özbek, Ebru Yılmaz, Arzu Akçay, Hacı Ahmet Demir
article en
3 citations

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.

Bone Marrow TransplantationVol. 60(7)
Yeditepe University (TR), Van Yüzüncü Yıl Üniversitesi (TR), Bursa Uludağ Üni̇versi̇tesi̇ (TR), Yahoo (United Kingdom) (GB), Ankara University (TR), Bilkent University (TR), Inonu University (TR), Istanbul Medipol University (TR), Ege University (TR), Memorial Ankara Hospital (TR), Antalya Bilim University (TR), Antalya Eğitim ve Araştırma Hastanesi (TR), Memorial Sisli Hospital (TR), Başkent University Hospital (TR), Sağlık Bilimleri Üniversitesi (TR), Istanbul Memorial Hospital (TR), Istanbul Eye Hospital (TR), Hasan Kalyoncu University (TR), Acıbadem Adana Hospital (TR), Antalya IVF (TR), Altınbaş University (TR), Kocaeli Üniversitesi (TR), Gaziantep University (TR), Erciyes University (TR)
Good health and well-being
Openalex Percentile: Top 5%
Autoimmune and Inflammatory Disorders Research
5.31
DOIOpen Access PDFOpenAlex
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