title: The 8;21 chromosome translocation in acute myeloid leukemia is always detectable by molecular analysis using AML1.
abstract: The AML1 gene was rearranged in leukemic cells with t(8;21)(q22;q22) or its variant, complex t(8;V;21) translocations from 33 acute myeloid leukemia (AML) patients. The AML1 rearrangement was also detected in three AML patients without t(8;21); two had a normal diploid karyotype, and one had a karyotype of 45,X, - X. The AML1 rearrangement in the t(8;21) breakpoint cluster region was not detected in leukemic cells with cytogenetic abnormalities other than t(8;21), or with normal diploidy obtained from 23 AML patients. Because leukemic cells of the five patients with complex t(8;V;21) translocations had a der(8)t(8;21) chromosome with a break in band 8q22 in common, the juxtaposition of the 5' side of AML1 to a predicted counterpart gene located in the breakpoint region of 8q22 may be an essential step in the leukemogenesis of AML with t(8;21). Our findings show that the 8;21 translocation, its variants, and the masked t(8;21) may all be detectable by the Southern hybridization method using the AML1 probes.
authors.affiliation: Third Clinical Department, Saitama Cancer Center Hospital, Japan.
authors.forename: N
authors.initials: N
authors.lastname: Maseki
authors.forename: H
authors.initials: H
authors.lastname: Miyoshi
authors.forename: K
authors.initials: K
authors.lastname: Shimizu
authors.forename: C
authors.initials: C
authors.lastname: Homma
authors.forename: M
authors.initials: M
authors.lastname: Ohki
authors.forename: M
authors.initials: M
authors.lastname: Sakurai
authors.forename: Y
authors.initials: Y
authors.lastname: Kaneko
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D002675:Child, Preschool; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D005260:Female; D015321:Gene Rearrangement; D006801:Humans; D007223:Infant; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000097:blood / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009857:Oncogenes; D014178:Translocation, Genetic