Chronic myeloid leukemia (CML) is characterized by the Philadelphia (Ph) chromosome in about %95 of patients, resulting from the translocation t(9;22)(q34;q11.2). This translocation leads to the formation of the chimeric BCR/ABL gene on the Ph chromosome. In this study, 22 cases with CML were investigated by Interphase Fluorescence in situ Hybridization assay which utilizes DNA probes that detect BCR/ABL fusion signal in cells carrying t(9;22) to evaluate the reliability and specificity of this method.

Peripheral blood (PB) and bone marrow (BM) samples collected from pre-diagnosed CML patients were analyzed as study materials. PB and BM specimens known to be normal pathologically were used as negative control group. PB and BM results obtained by interphase-FISH and conventional cytogenetic techniques were compared.

According to statistical analyze, between interphase-FISH and cytogenetic results obtained from BM samples showed that there was no significant difference. The PB and BM results obtained by interphase-FISH were later compared, and were found a strong correlation between these two specimens. Our results confirmed that interphase Dual-FISH (D-FISH) is a sensitive technique for the evaluation of patients with CML. Interphase D-FISH emerges as a reliable and fast tool for the detection of BCR/ABL rearrangements in CML patients at diagnosis. D-FISH might be considered as the initial test for the diagnosis of Ph(+) CML.