title: Acute myeloid leukemia (AML-M2) associated with variant t(8;21): report of three cases.
abstract: Variants of the t(8;21)(q22;q22) involving chromosome 8, 21, and other chromosomes account for approximately 3% of all t(8;21)(q22;q22) found in patients with acute myeloid leukemia (AML). The clinicopathologic features of AML with the variant t(8;21) have not been well established. We report three cases of AML with variants of t(8;21) characterized, respectively, by derivative 8 with the interstitial inverted insertion of 21q and concurrent monosomy 21, t(8;18;21)(p22;q11.3;q22), and t(2;21;8)(q11.2;q22;q22). Fluorescence in situ hybridization or reverse transcriptase-polymerase chain reaction assay confirmed the presence of RUNX1-RUNX1T1 gene (previously AML1-ETO) rearrangements. Among these cases, three-way breakpoints 18p11.3 and 2q11.2 have not been previously reported. The present report deals with the results of hematologic, immunophenotypic, cytogenetic, fluorescence in situ hybridization, and molecular analyses of these variants. The possible role of the genes in this region in leukemogenesis, response to treatment, and clinical implications are discussed.
authors.affiliation: Department of Laboratory Medicine, Korea University College of Medicine, Seongbuk-Gu, Seoul, Republic of Korea.
authors.forename: Sook Young
authors.initials: SY
authors.lastname: Bae
authors.forename: Jang Su
authors.initials: JS
authors.lastname: Kim
authors.forename: Bung Jun
authors.initials: BJ
authors.lastname: Ryeu
authors.forename: Kap No
authors.initials: KN
authors.lastname: Lee
authors.forename: Chang Kyu
authors.initials: CK
authors.lastname: Lee
authors.forename: Young Kee
authors.initials: YK
authors.lastname: Kim
authors.forename: Chae Seung
authors.initials: CS
authors.lastname: Lim
authors.forename: Yunjung
authors.initials: Y
authors.lastname: Cho
authors.forename: Chul Won
authors.initials: CW
authors.lastname: Choi
authors.forename: Sook-Won
authors.initials: SW
authors.lastname: Ryu
authors.forename: Soo-Young
authors.initials: SY
authors.lastname: Yoon
mesh_terms: D000328:Adult; D001483:Base Sequence; D020223:Chromosome Painting; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D016130:Immunophenotyping; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D014178:Translocation, Genetic; D055815:Young Adult