Genomic structure and nucleotide sequence of AML1-ETO fusion genes in children with acute myeloid leukemia

Abstract

Background: The human ETO gene at 8q22 is a common fusion partner of the AML1 gene at 21q22, resulting in the translocation t(8;21)(q22;q22). The AML1 gene spans more than 340kb whereas ETO only spans 150kb. Respectively three breakpoint cluster regions (BCRs) have been identified in intron 5 of AML1 and intron 1b of ETO. In infants with AML 11% present a t(8;21) at diagnosis.