Screening for specific chromosome involvement in hematological malignancies using a set of seven chromosome painting probes - An alternative approachfor chromosome analysis using standard FISH instrumentation

We report the application of multi-color fluorescence in situ hydribidizati on (FISH) for bone marrow metaphase cell analysis of hematological malignan cies using a sub-set of the human karyotype for chromosome painting. A comb ination of chromosome probes labeled with three haptens enabled the constru ction of a "painting probe" which detects seven different chromosomes. The probe was used to screen three chronic myeloid leukemia (CML) derived cell lines and ten CML patient bone marrow samples for aberrations, additional t o the Ph rearrangement, that are associated with the onset of blast crisis of CML. This approach was shown to identify karyotype changes commonly seen by conventional karyotyping, and in addition revealed chromosome changes u nresolved or undetected by conventional cytogenetic analysis. The seven-col or painting probe provides a useful, fast, and reliable complementary tool for chromosome analysis, especially in cases with poor chromosome morpholog y. This is a simple approach, since the probes can be displayed in a standa rd red/green/blue format accessible to standard fluorescence microscopes an d image processing software. The proposed approach using panels of locus-sp ecific probes as well as chromosome paints will be useful in all diagnostic routine environments where analysis is directed towards screening for gene tic rearrangements and/or specific patterns of chromosome involvement with diagnostic/prognostic value. (C) 2000 Elsevier Science Inc. All rights rese rved.