TY - JOUR
T1 - Acute myeloid leukemia (AML-M2) associated with variant t(8;21)
T2 - report of three cases
AU - Bae, Sook Young
AU - Kim, Jang Su
AU - Ryeu, Bung Jun
AU - Lee, Kap No
AU - Lee, Chang Kyu
AU - Kim, Young Kee
AU - Lim, Chae Seung
AU - Cho, Yunjung
AU - Choi, Chul Won
AU - Ryu, Sook Won
AU - Yoon, Soo Young
PY - 2010/5
Y1 - 2010/5
N2 - 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.
AB - 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.
UR - http://www.scopus.com/inward/record.url?scp=77951905718&partnerID=8YFLogxK
U2 - 10.1016/j.cancergencyto.2009.10.002
DO - 10.1016/j.cancergencyto.2009.10.002
M3 - Article
C2 - 20417866
AN - SCOPUS:77951905718
SN - 0165-4608
VL - 199
SP - 31
EP - 37
JO - Cancer Genetics and Cytogenetics
JF - Cancer Genetics and Cytogenetics
IS - 1
ER -
