Acute myeloid leukemia (AML-M2) associated with variant t(8;21): report of three cases

作者：Bae Sook Young; Kim Jang Su; Ryeu Bung Jun; Lee Kap No; Lee Chang Kyu; Kim Young Kee; Lim Chae Seung; Cho Yunjung; Choi Chul Won; Ryu Sook Won; Yoon Soo Young^*

来源：Cancer Genetics and Cytogenetics, 2010, 199(1): 31-37.

DOI：10.1016/j.cancergencyto.2009.10.002

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 RUIVX1 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.

• 出版日期2010-5