During a 4-year period (December 1990-December 1994), among other diag
noses one hundred cases of chronic myeloid leukemia (CML) were analyze
d in our department. We focused our attention on two cases with a vari
ant form of Philadelphia translocation. Cytogenetic and molecular gene
tic studies were performed to resolve the status of BCR and ABL in the
bone marrow or peripheral blood cells of the two CML patients with co
mplex translocations involving chromosomes 3, 9, 22 and 9, 12, 22 resp
ectively. In the first case the presence of Ph chromosome was detected
cytogenetically, BCR-ABL translocation was detected by Southern hybri
dization. In the second case, only the PCR method showed BCR-ABL rearr
angement. The second case, with a random variant form of Ph translocat
ion, could be detected using different methods of clinical molecular g
enetics.