Author/Authors :
Bae، نويسنده , , Sook Young and Kim، نويسنده , , Jang Su and Ryeu، نويسنده , , Bung Jun and Lee، نويسنده , , Kap No and Lee، نويسنده , , Chang Kyu and Kim، نويسنده , , Young Kee and Lim، نويسنده , , Chae Seung and Cho، نويسنده , , Yunjung and Choi، نويسنده , , Chul Won and Ryu، نويسنده , , Sook-Won and Yoon، نويسنده , , Soo-Young، نويسنده ,
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.
