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

Mari Kagajo; Kyoko Moritani; Mayumi Iwamoto; Machiko Miyamoto; Tsuyoshi Imai; Motoharu Hamada; Manabu Wakamatsu; Hideki Muramatsu; Minenori Eguchi-Ishimae; Mariko Eguchi

doi:10.1016/j.lrr.2024.100476

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

Leuk Res Rep. 2024 Jul 24:22:100476. doi: 10.1016/j.lrr.2024.100476. eCollection 2024.

Affiliations

¹ Department of Pediatrics, Ehime University Graduate School of Medicine, Japan.
² Department of Pediatric Hematology and Oncology, NHO Shikoku Medical Center for Children and Adults, Japan.
³ Department of Virology, Nagoya City University Graduate School of Medical Sciences, Japan.
⁴ Department of Pediatrics, Nagoya University Graduate School of Medicine, Japan.

Abstract

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.

Keywords: AMeD syndrome; Hematopoietic stem cell transplantation; Inherited bone marrow failure; Isochromosome 1q.

Publication types

Case Reports