Philadelphia-negative chronic myeloid leukaemia: detection by FISH of BCR-ABL fusion gene localized either to chromosome 9 or chromosome 22.

Dual-colour FISH has been used to study two patients with chronic myeloid leukaemia (CML) associated with a normal karyotype. Co-localization of signals from BCR and ABL cosmids was observed in interphase nuclei from both patients. In one patient, analysis of metaphase spreads showed that the 3' region of the ABL gene was deleted from one chromosome 9 and inserted into chromosome 22. In a second patient 5' BCR sequences were missing from one copy of chromosome 22, and co-localized with 3' ABL sequences on chromosome 9. These results demonstrate the molecular heterogeneity of Ph-negative CML. In addition, they illustrate the potential usefulness of dual-colour FISH on interphase nuclei for monitoring the response to treatment of patients with Ph-negative CML.