chromosomal translocation t(8;21)(q22;q22) (AML/ETO)

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Introduction

Found in acute myeloid leukemias particularly AML-M2, 18-40% of cases depending on reference []2]. AML1-ETO knock-in mice (heterozygotes) died in mid-gestation from CNS hemorrhage & showed severe block of liver hematopoiesis, suggesting AML1-ETO fusion protein blocks normal AML1 protein or core binding factor alpha-2.

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References

  1. Yergeau et al. Nature Genetics 15:303-6, 1997