loading page

HEMATOPOIETIC STEM CELL TRANSPLANTATION WITH REDUCED TOXICITY CONDITIONING REGIMEN IN MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOPATHY SYNDROME (MNGIE)
  • +12
  • Gülcihan Ozek,
  • Serap Aksoylar ,
  • Sema Kalkan Uçar,
  • Ebru Canda,
  • Mediha Akcan,
  • Ozgur Carti,
  • Zuhal Siviş,
  • Yesim Oymak,
  • Havva Yazıcı,
  • Bridget Bax,
  • Fatma Derya Bulut,
  • Merve Yoldaş Çelik,
  • Fehime Erdem,
  • Mahmut Çoker,
  • Savaş Kansoy
Gülcihan Ozek
University of Michigan Department of Pediatrics

Corresponding Author:gulcihanozek@yahoo.com

Author Profile
Serap Aksoylar
University of Michigan Department of Pediatrics
Author Profile
Sema Kalkan Uçar
University of Michigan Department of Pediatrics
Author Profile
Ebru Canda
University of Michigan Department of Pediatrics
Author Profile
Mediha Akcan
University of Michigan Department of Pediatrics
Author Profile
Ozgur Carti
University of Michigan Department of Pediatrics
Author Profile
Zuhal Siviş
University of Michigan Department of Pediatrics
Author Profile
Yesim Oymak
University of Michigan Department of Pediatrics
Author Profile
Havva Yazıcı
University of Michigan Department of Pediatrics
Author Profile
Bridget Bax
St George's University of London Molecular and Clinical Sciences Research Institute
Author Profile
Fatma Derya Bulut
University of Michigan Department of Pediatrics
Author Profile
Merve Yoldaş Çelik
University of Michigan Department of Pediatrics
Author Profile
Fehime Erdem
University of Michigan Department of Pediatrics
Author Profile
Mahmut Çoker
University of Michigan Department of Pediatrics
Author Profile
Savaş Kansoy
University of Michigan Department of Pediatrics
Author Profile

Abstract

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). Aim:In this retrospective study, we evaluated HSCT that was performed using a reduced toxicicity myeloablative conditioning regimen in patients with MNGIE at our center. Results: A total of 6 allogeneic transplant procedures were performed in 4 patients. Three patients’ donors had fully matched donors, and one patients’ donor was haploidentical. Treosulfan-based myeloablative conditioning regimen was applied in 5 of 6 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 GIS 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. 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.
09 Jan 2023Submission Checks Completed
09 Jan 2023Assigned to Editor
09 Jan 2023Submitted to Pediatric Blood & Cancer
10 Jan 2023Review(s) Completed, Editorial Evaluation Pending
11 Jan 2023Reviewer(s) Assigned
30 Jan 2023Editorial Decision: Revise Major
06 Mar 2023Submission Checks Completed
06 Mar 2023Assigned to Editor
06 Mar 20231st Revision Received
06 Mar 2023Review(s) Completed, Editorial Evaluation Pending
06 Mar 2023Reviewer(s) Assigned
13 Mar 2023Editorial Decision: Accept