Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome

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dc.authorscopusid55239904000
dc.authorscopusid6602113525
dc.authorscopusid57555608500
dc.authorscopusid23059712400
dc.authorscopusid36522225000
dc.authorscopusid37025623000
dc.authorscopusid56755232600
dc.contributor.authorOzek, G.
dc.contributor.authorAksoylar, S.
dc.contributor.authorUçar, S.K.
dc.contributor.authorCanda, E.
dc.contributor.authorAkcan, M.
dc.contributor.authorCartı, O.
dc.contributor.authorSiviş, Z.O.
dc.date.accessioned2024-08-25T18:46:18Z
dc.date.available2024-08-25T18:46:18Z
dc.date.issued2023
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground: Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder due to mutations in the TYMP gene. Clinical findings are characterized by neurologic manifestations and severe gastrointestinal dysfunction. The syndrome is usually fatal, the most effective treatment appears to be hematopoietic stem cell transplantation (HSCT). Procedure: In this retrospective study, we evaluated HSCT that was performed using a reduced toxicity myeloablative conditioning regimen in patients with MNGIE at our center. Results: A total of six allogeneic transplant procedures were performed in four patients. Three patients had fully matched donors, and one patient had a haploidentical donor. Treosulfan-based myeloablative conditioning regimen was applied in five of six transplants. Bone marrow was used as a stem cell source. One patient is being followed up in the 4th year of posttransplant with full chimeric and without graft versus host disease (GVHD). One patient died of acute stage IV gastrointestinal system GVHD. Two patients underwent second transplantation due to engraftment failure, one of which was the patient who had a haploidentical transplant. Conclusions: Treosulfan-based regimen is well tolerated, although engraftment failure with this conditioning regimen can be a significant problem. We share our haploidentical transplant experience, which will be the first reported case in the literature. © 2023 The Authors. Pediatric Blood & Cancer published by Wiley Periodicals LLC.en_US
dc.identifier.doi10.1002/pbc.30334
dc.identifier.issn1545-5009
dc.identifier.pmid37046411en_US
dc.identifier.scopus2-s2.0-85152465361en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.urihttps://doi.org/10.1002/pbc.30334
dc.identifier.urihttps://hdl.handle.net/11454/101860
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherJohn Wiley and Sons Incen_US
dc.relation.ispartofPediatric Blood and Canceren_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmz20240825_Gen_US
dc.subjecthematopoietic stem cell transplantationen_US
dc.subjectMNGIEen_US
dc.subjecttreosulfanen_US
dc.titleHematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndromeen_US
dc.typeArticleen_US

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