Acute myeloid leukemia (AML-M2) associated with variant t(8;21): report of three cases.
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.
Bae
Sook Young
SY
Department of Laboratory Medicine, Korea University College of Medicine, Seongbuk-Gu, Seoul, Republic of Korea.
Kim
Jang Su
JS
Ryeu
Bung Jun
BJ
Lee
Kap No
KN
Lee
Chang Kyu
CK
Kim
Young Kee
YK
Lim
Chae Seung
CS
Cho
Yunjung
Y
Choi
Chul Won
CW
Ryu
Sook-Won
SW
Yoon
Soo-Young
SY
D000328:Adult; D001483:Base Sequence; D020223:Chromosome Painting; D002891:Chromosomes, Human, Pair 21 / Q000235:genetics*; D002898:Chromosomes, Human, Pair 8 / Q000235:genetics*; D004252:DNA Mutational Analysis; D006801:Humans; D016130:Immunophenotyping; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D014178:Translocation, Genetic; D055815:Young Adult