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Two cases of AMeD syndrome with isochromosome 1q treated with allogeneic stem cell transplantation
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  • Mari Kagajo,
  • Kyoko Moritani,
  • Mayumi Iwamoto,
  • Machiko Miyamoto,
  • Tsuyoshi Imai,
  • Hamada Motoharu,
  • Manabu Wakamatsu,
  • Hideki Muramatsu,
  • Minenori Eguchi-Ishimae,
  • Mariko Eguchi
Mari Kagajo
Ehime Daigaku Daigakuin Igakukei Kenkyuka Igakubu

Corresponding Author:kagajo.mari.qi@ehime-u.ac.jp

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Kyoko Moritani
Ehime Daigaku Daigakuin Igakukei Kenkyuka Igakubu
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Mayumi Iwamoto
Ehime Daigaku Daigakuin Igakukei Kenkyuka Igakubu
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Machiko Miyamoto
Ehime Daigaku Daigakuin Igakukei Kenkyuka Igakubu
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Tsuyoshi Imai
Kokuritsu Byoin Kiko Shikoku Kodomoto Otonano Iryo Center
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Hamada Motoharu
Nagoya Shiritsu Daigaku Daigakuin Igaku Kenkyuka Igakubu
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Manabu Wakamatsu
Nagoya University Graduate School of Medicine
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Hideki Muramatsu
Nagoya University Graduate School of Medicine
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Minenori Eguchi-Ishimae
Ehime Daigaku Daigakuin Igakukei Kenkyuka Igakubu
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Mariko Eguchi
Ehime Daigaku Daigakuin Igakukei Kenkyuka Igakubu
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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.