Vnitr Lek 1993, 39(10):964-968

[BCR and ABL gene rearrangement in chronic myeloid leukemia].

B Rypácková, C Haskovec, R Brdicka: Ustav hematologie a krevní transfuze Praha.

The fact of chromosome 9 and 22 translocation connected with the fusion of BCR and ABL genes occurring in 95% patients with chronic myeloid leukemia (CML) enables us to use molecular biology methods in CML diagnosis. By means of these methods we also can prove the rearrangement of BCR gene in some cytogenetically negative cases that are without so called Philadelphia (Ph) chromosome. 51 patients with myeloproliferative disease have been tested by Southern technique during the last year. The rearrangement of BCR gene was detected in 28 patients, in 13 of 14 patients where the Ph chromosome and also in 3 of 13 patients where the Ph chromosome was not detected. The detection of BCR gene rearrangement helped us to set the diagnosis of CML more precisely.