A new classification of interphase nuclei based on spatial organizations of chromosome 8 and 21 for t(8;21) (q22;q22) acute myeloid leukemia by three-dimensional fluorescence in situ hybridization

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

“…A previous study revealed that MCs accounted for <20% of all cells from healthy donors or patients in the remittent stage (16). However, in the present study, MCs in BM samples from the patient with AML1/RUNX1T1 -AML-M2 represented ~24% of all cells derived from this patient.…”

“…Disease deterioration was detected using 3D-FISH [with 37% malignant cells (MCs); P<0.05] 4 months prior to final relapse, whereas the PCR and 2D-FISH results were negative with no gene fusion transcripts or chromosomal translocations. 3D-FISH analysis in the study provided information that may assist in predicting early relapse (16).…”

“…Spatially proximal heterogeneous chromosomes are more likely to cause chromosomal translocations compared with spatially distant heterogeneous chromosomes, and these translocation-prone chromosomes are frequently located towards the center of the nucleus (12)(13)(14)(15). To further understand the clinical features and treatment response, our previous study followed up with a patient with AML with maturation to delineate the spatial organization of leukemia-specific chromosomes using three-dimensional fluorescence in situ hybridization (3D-FISH) as a means to detect MRD persistence (16). Disease deterioration was detected using 3D-FISH [with 37% malignant cells (MCs); P<0.05] 4 months prior to final relapse, whereas the PCR and 2D-FISH results were negative with no gene fusion transcripts or chromosomal translocations.…”

Significance of spatial organization of chromosomes in the progression of acute myeloid leukemia

“…Real-time fluorescent quantitative polymerase chain reaction (RQ-PCR) is a powerful tool for monitoring the presence of residual disease and planning treatment strategies [5, 6]; however, this technique is not 100% accurate [7]. The three-dimensional organization of chromosomes might be a valuable prognostic marker of the risk of relapse in patients with t(8;21)(q22;q22)-positive AML [8]. To further study the utility of this approach, we evaluated bone marrow (BM) samples from a patient with t(8;21)(q22;q22)-positive AML-M2 before and after hematopoietic stem cell transplantation (HSCT) using three-dimensional fluorescence in situ hybridization (3D-FISH) and confocal laser scanning microscopy to delineate and analyze the spatial organization of the target chromosomes.…”

“…In our previous study, we evaluated BM samples from t(8;21)(q22;q22)-negative AML-M2 patients and donors with a normal karyotype [8]. The percentage of malignant cells in all participants was <20%.…”