HEMATOPOIETIC STEM CELL TRANSPLANTATION WITH REDUCED TOXICITY
CONDITIONING REGIMEN IN MITOCHONDRIAL NEUROGASTROINTESTINAL
ENCEPHALOPATHY SYNDROME (MNGIE)
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.