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