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

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.

Properties

GENERAL: chromosomal translocation FORM: t(8;21)(q22;q22) (AML/ETO) LOCUS: human chromosome-8 Q22 human chromosome-21 Q22 PATHOLOGY: AML-M2; acute myeloblastic leukemia with maturation SPLICED-GENES: AML1 or CBFA2 gene eto gene

References

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