Two cases of AMeD syndrome with isochromosome 1q treated with allogeneic stem cell transplantation.

Autor:	Kagajo M; Department of Pediatrics, Ehime University Graduate School of Medicine, Japan., Moritani K; Department of Pediatrics, Ehime University Graduate School of Medicine, Japan., Iwamoto M; Department of Pediatrics, Ehime University Graduate School of Medicine, Japan., Miyamoto M; Department of Pediatrics, Ehime University Graduate School of Medicine, Japan., Imai T; Department of Pediatric Hematology and Oncology, NHO Shikoku Medical Center for Children and Adults, Japan., Hamada M; Department of Virology, Nagoya City University Graduate School of Medical Sciences, Japan., Wakamatsu M; Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan., Muramatsu H; Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan., Eguchi-Ishimae M; Department of Pediatrics, Ehime University Graduate School of Medicine, Japan., Eguchi M; Department of Pediatrics, Ehime University Graduate School of Medicine, Japan.
Jazyk:	angličtina
Zdroj:	Leukemia research reports [Leuk Res Rep] 2024 Jul 24; Vol. 22, pp. 100476. Date of Electronic Publication: 2024 Jul 24 (Print Publication: 2024).
DOI:	10.1016/j.lrr.2024.100476
Abstrakt:	AMeD syndrome is characterized by aplastic anemia, mental retardation, short stature, and microcephaly and is caused by digenic mutations in the aldehyde dehydrogenase 2 (ALDH2) and alcohol dehydrogenase 5 (ADH5) genes. We have successfully performed hematopoietic stem cell transplantation in two patients with AMeD syndrome and isochromosome 1q. AMeD syndrome with myelodysplastic syndrome or acute myeloblastic leukemia generally has a poor prognosis; however, early diagnosis may improve treatment response. Although the gain of 1q has been considered as a form of early clonal evolution in Fanconi anemia, it may be an equally important finding observed in AMeD syndrome. Competing Interests: The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper. (© 2024 The Authors. Published by Elsevier Ltd.)
Databáze:	MEDLINE
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