Comparison of spatial chromosomal organization between bone marrow and peripheral blood in acute myeloid leukemia

Acute myeloid leukemia associated with t(8;21)(q22;q22)/runt related transcription factor (RUNX)1-RUNX1 translocation partner 1 has been reported to exhibit a favorable outcome. The quantitative polymerase chain reaction is a reliable method for assessing minimal residual disease persistence, and peripheral blood (PB) samples are as informative as bone marrow (BM) samples during follow-up monitoring. However, few studies have compared the spatial organization of leukemia-specific chromosomes between BM and PB. In the present study, paired BM and PB samples were extracted from 6 patients with acute myeloid leukaemia-M2 and compared using three-dimensional fluorescence in situ hybridization. Cells were classified into three types: Normal, proximal and malignant. Comparisons of proportions (% of all cells) of different cell types revealed no significant difference between BM and PB samples. The relative radial positions (RRPs; d/R) of chromosomes 8 and 21 were consistent for 2/3 of BM and PB samples. The RRPs of chromosomes in proximal pairs were more interior in nuclei compared with chromosomes in normal pairs for BM and PB samples. The consistency of the spatial organization of chromosomes between BM and PB suggests that PB may be an alternative to BM for research and clinical diagnosis.