Primary application of spectral karyotyping in leukemia

Abstract

To establish a spectral karyotyping (SKY) technique and explore the value of SKY in leukemia research. SKY technique was conducted on 2 samples of peripheral blood from 2 healthy volunteers, then on the samples from 8 patients with leukemia, including chronic myelocytic leukemia (CML) and acute myelocytic leukemia (AML) confirmed by R-banding. In addition, four patients underwent dual fusion-fluorescence in situ hybridization (DF-FISH) to detect the mixed lineage leukemia (MLL), PML/RARa, and BCR/ABL fusion genes. By comparing the results of SKY, R-band karyotyping, and DF-FISH, the stability and reliability of SKY was judged. All 10 samples were successfully hybridized and karyotyped. The 2 cases of healthy volunteers showed normal karyotypes, thus, a specific SKY technique was successfully established. In the 8 cases of leukemia patients, SKY identified aberrations including 9q-, t (9; 22), t (15; 17) and the complex karyotype 47, XY, +9?ins (1;5) (q23;q23), t (6;7) (q23?; p13), in addition, the SKY technique detected some number abnormalities. The results of SKY confirmed the results of R-band karyotyping and DF-FISH; moreover, the SKY technique provided more accurate karyotypes. With high stability, accuracy, and sensitivity, the SKY technique established by this study can be applied in leukemia research.