Secondary near-pentaploidy and/or near-tetraploidy characterized by the duplication of 8;21 translocation in the M2 subtype of acute myeloid leukemia.
Hyperploidy, especially near-tetraploidy, is rare in acute myeloid leukemia (AML). We report 2 cases with secondary hyperploidy characterized by double 8;21 translocations. Morphologic observation of bone marrow smears revealed numerous giant blasts in both cases. Chromosome analyses with R-banding technique showed a karyotype of 46,XX,t(8;21)(2%)/92,XXXX, add(7)(q31)x2,t(8;21)x2(7%)/100-117,XXX,-X,-X,-1,+4,+4,-7,+add(7)(q31)x3 , t(8;21)x2,+der(21)t(8;21),+22(90.6%)/46,XX(0.3%) in case 1 and a karyotype of 45,X,-Y,t(8;21)(15%)/90,XX,-Y,-Y,t(8;21)x2(80%)/46,XY(5%) in case 2. DNA ploidy analyses by flow cytometry showed triple peaks (diploid, tetraploid [DI 2.09] and near-pentaploid [DI 2.59]) in case 1, and double peaks (diploid and near-tetraploid [DI 2.07]) in case 2. Reverse-transcriptase polymerase chain reaction detected an AML1/ETO fusion transcript (152 bp) in both cases. This paper brings the total number of cases of secondary hyperploid t(8;21) AML to 6 and further emphasizes a correlation between hyperploidy and t(8;21) translocation.
Xue
Y
Y
Leukemia Research Unit, Jiangsu Institute of Hematology, First Affiliated Hospital of Suzhou Medical College, Suzhou, People's Republic of China.
He
J
J
Wang
Y
Y
Guo
Y
Y
Xie
X
X
He
Y
Y
Chai
Y
Y
Ruan
Z
Z
D001853:Bone Marrow / Q000473:pathology; D002648:Child; D002891:Chromosomes, Human, Pair 21; D002898:Chromosomes, Human, Pair 8; D002999:Clone Cells / Q000473:pathology; D005260:Female; D006801:Humans; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000097:blood / Q000235:genetics; D011123:Polyploidy; D014178:Translocation, Genetic / Q000235:genetics*
D015514:Oncogene Proteins, Fusion