[Rearrangements and fusion gene of AML1 and MTG8 in acute myeloid leukemia M2b].

The t(8;21) reciprocal chromosomal translocation is frequently associated with M2b type of acute myeloid leukemia (AML). Recently, two genes, MTG8 on chromosome 8 and AML1 on chromosome 21, were found. The t(8;21) translocation resulted in rearrangements of the two genes and formation of AML1/MTG8 fusion gene. To clarify the molecular characteristics of AML-M2b, we studied 41 patients with AML-M2b. By Southern blot and hybridization, the rearrangements of AML1 and MTG8 genes were detected in 24 of 30 and 22 of 28 patients, respectively. By means of reverse transcription and polymerase chain reaction (RT-PCR), the AML1/MTG8 chimeric transcript was found in all 37 patients. In 4 patients with AML-M2b of normal karyotype, AML1/MTG8 fusion mRNA and/or rearrangements of AML1 and MTG8 genes were detected. However, among 31 patients with other types of AML, these abnormalities were found in only one patient with AML-M6. These results suggest that rearrangements of AML1, MTG8 genes and/or AML1/MTG8 fusion gene could be regarded as gene marker of AML-M2b that can be applied in the diagnosis and monitoring of therapy and minimal residual disease.