The t821 AML1CBFaETO Translocation

The genes affected by this translocation are the AML1 gene on chromosome 21 and ETO on chromosome 8. They are consequently fused in the der(8) chromosome to produce a novel chimeric gene. AML1 is a subunit of a multicomponent transcription factor complex known as core binding factor (CBF). CBF-a normally increases the DNA binding affinity of AML1. Thus, the fusion with chromosome 8 appears to disrupt AML1 function.108,109 Since the breakpoints occurring during the t(8;21) are highly conserved within the single intron of both genes, it is possible to detect this translocation by molecular techniques.

The t(8;21) is found in approximately 7 to 12 percent of AML overall and 20 to 25 percent of AML M2. Although more than 90 percent of t(8;21) have been described in AML M2, this cytogenetic abnormality has also been identified in 6 percent of AML Ml and rarely in AML M4.110 Its incidence is higher in children107 and it is often associated with chloromas.110 An eosinophilic component at least 5 percent is seen in about one-third of patients. Although previous reports had shown characteristic morphological features of t(8;21) positive leukemic blasts111-113 (Plate 14-21), in recent studies, the cases with t(8;21) morphology did not correspond preferentially to those with a t(8;21) as opposed to an AML/ETO fusion transcript.108-114

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