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

• Published in: Cancer genetics and cytogenetics 2010-05, Vol.199 (1), p.31-37
• Main Authors: 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
• Format: Article
• Language: English
• Subjects: Adult; Base Sequence; Chromosome Painting; Chromosomes, Human, Pair 21 - genetics; Chromosomes, Human, Pair 8 - genetics; DNA Mutational Analysis; Hematology, Oncology and Palliative Medicine; Humans; Immunophenotyping; Karyotyping; Leukemia, Myeloid, Acute - diagnosis; Leukemia, Myeloid, Acute - genetics; Leukemia, Myeloid, Acute - pathology; Male; Medical Education; Middle Aged; Molecular Sequence Data; Translocation, Genetic; Young Adult
• ISSN: 0165-4608; 1873-4456
• DOI: 10.1016/j.cancergencyto.2009.10.002

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.