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

Autor: Ozek G; Department of Pediatrics, Division of Pediatric Hemathology and Oncology, Ege University Medical Faculty, Izmir, Turkey., Aksoylar S; Department of Pediatrics, Division of Pediatric Hemathology and Oncology, Ege University Medical Faculty, Izmir, Turkey., Uçar SK; Department of Pediatrics, Division of Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey., Canda E; Department of Pediatrics, Division of Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey., Akcan M; Department of Pediatrics, Division of Pediatric Hemathology and Oncology, Ege University Medical Faculty, Izmir, Turkey., Cartı O; Department of Pediatrics, Division of Pediatric Hemathology and Oncology, Ege University Medical Faculty, Izmir, Turkey., Siviş ZO; Department of Pediatrics, Division of Pediatric Hemathology and Oncology, Ege University Medical Faculty, Izmir, Turkey., Oymak Y; Department of Pediatrics, Division of Pediatric Hemathology and Oncology, Ege University Medical Faculty, Izmir, Turkey., Yazıcı H; Department of Pediatrics, Division of Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey., Bax B; Department of Cell Biology, Institute of Molecular and Clinical Sciences, St George's University of London, London, UK., Bulut FD; Department of Pediatrics, Division of Metabolism and Nutrition, Çukurova University Medical Faculty, Adana, Turkey., Yoldaş Çelik M; Department of Pediatrics, Division of Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey., Erdem F; Department of Pediatrics, Division of Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey., Çoker M; Department of Pediatrics, Division of Metabolism and Nutrition, Ege University Medical Faculty, Izmir, Turkey., Kansoy S; Department of Pediatrics, Division of Pediatric Hemathology and Oncology, Ege University Medical Faculty, Izmir, Turkey.
Jazyk: angličtina
Zdroj: Pediatric blood & cancer [Pediatr Blood Cancer] 2023 Jul; Vol. 70 (7), pp. e30334. Date of Electronic Publication: 2023 Apr 12.
DOI: 10.1002/pbc.30334
Abstrakt: Background: 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.)
Databáze: MEDLINE
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