Dicentric chromosomes (DCs) are considered markers of cancer in various malignancies. However, they can be overlooked when conventional analysis or multicolor fluorescence in situ hybridization (mFISH) is used to detect complex karyotypes. We analyzed the karyotypes of 114 patients with acute myeloid leukemia (AML) and complex karyotypes and verified the presence of monosomies by FISH using multi-centromeric probes. Monosomy was detected in 63% of patients by G-banding/mFISH and confirmed in 55% of patients by centromeric FISH. FISH analysis indicated a high frequency of DCs that were previously considered monosomies. In some cases, it was apparent that the derivative monocentric chromosome was a primary DC. DCs were formed mostly by chromosomes 17 and 20. In conclusion, chromosome loss and unbalanced translocation suggest the presence of a hidden DC or its previous existence. DCs undergo several stabilizing changes and can induce other chromosomal aberrations and/or the formation of new DCs. This can result in the clonal evolution of abnormal cells, which is considered an independent prognostic marker of an unfavorable disease course and short survival.

1st Department of Internal Medicine of General University Hospital and 1st Faculty of Medicine Charles University U Nemocnice 2 128 08 Prague 2 Czech Republic

Center of Oncocytogenetics Institute of Medical Biochemistry and Laboratory Diagnostics General University Hospital and 1st Faculty of Medicine Charles University U Nemocnice 2 128 08 Prague 2 Czech Republic

Institute of Hematology and Blood Transfusion U Nemocnice 1 128 20 Prague 2 Czech Republic

Institute of Hematology and Blood Transfusion U Nemocnice 1 128 20 Prague 2 Czech Republic; Center of Oncocytogenetics Institute of Medical Biochemistry and Laboratory Diagnostics General University Hospital and 1st Faculty of Medicine Charles University U Nemocnice 2 128 08 Prague 2 Czech Republic

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