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

Sook Young Bae, Jang Su Kim, Bung Jun Ryeu, Kap No Lee, Chang Kyu Lee, Young Kee Kim, Chae Seung Lim, Yunjung Cho, Chul Won Choi, Sook Won Ryu, Soo-Young Yoon

Research output: Contribution to journalArticle

10 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)31-37
Number of pages7
JournalCancer Genetics and Cytogenetics
Issue number1
Publication statusPublished - 2010 May 1


ASJC Scopus subject areas

  • Cancer Research
  • Genetics
  • Molecular Biology

Cite this