The non-random chromosomal translocation t(8;21) occurs in up to 10% of de novo AML cases. It is more common in AML with features of maturation. This gene fuses the AML gene on 21q22 with the ETO gene on 8q22. The breakpoints in this translocation invariably occur within defined regions in the AML and ETO genes, resulting in a fairly uniform fusion product. Early studies of this translocation suggested that there was persistence of this transcript in almost all cases studied, even in patients in long-term remission. This suggests that the AML1/ETO translocation may be necessary, but in itself insufficient, for leukemic transformation. Recent studies using quantitative PCR analysis have suggested, however, that a quantitative increase in the fusion transcript is predictive of subsequent relapse.
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