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

• Published in: Cancer genetics and cytogenetics Vol. 122; no. 2; pp. 65 - 72
• Main Authors: Nacheva, E.P, Gribble, S, Andrews, K, Wienberg, J, Grace, C.D
• Format: Journal Article
• Language: English
• Published: New York, NY Elsevier Inc 15-10-2000; Elsevier Science
• Subjects: Biological and medical sciences; Chromosome Aberrations; Chromosome Painting - methods; DNA Probes; Female; Hematologic and hematopoietic diseases; Hematologic Neoplasms - genetics; Hematologic Neoplasms - pathology; Humans; In Situ Hybridization, Fluorescence; K562 Cells; Karyotyping; Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics; Leukemia, Myelogenous, Chronic, BCR-ABL Positive - pathology; Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis; Male; Medical sciences; Philadelphia Chromosome; Translocation, Genetic; Tumor Cells, Cultured; Chromosomal aberration; Human; Methodology; Malignant hemopathy; Philadelphia chromosome; Myeloproliferative syndrome; Chronic; Fluorescence in situ hybridization; Chronic myelocytic leukemia; Established cell line; Cytogenetics; Abnormal chromosome; Genetics; Diagnosis; Molecular biology; Chromosome painting; Karyotype; Chromosome translocation
• ISSN: 0165-4608; 1873-4456
• DOI: 10.1016/S0165-4608(00)00282-X

We report the application of multi-color fluorescence in situ hydribidization (FISH) for bone marrow metaphase cell analysis of hematological malignancies using a sub-set of the human karyotype for chromosome painting. A combination of chromosome probes labeled with three haptens enabled the construction 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 to 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 unresolved or undetected by conventional cytogenetic analysis. The seven-color painting probe provides a useful, fast, and reliable complementary tool for chromosome analysis, especially in cases with poor chromosome morphology. This is a simple approach, since the probes can be displayed in a standard red/green/blue format accessible to standard fluorescence microscopes and image-processing software. The proposed approach using panels of locus-specific probes as well as chromosome paints will be useful in all diagnostic routine environments where analysis is directed towards screening for genetic rearrangements and/or specific patterns of chromosome involvement with diagnostic/prognostic value.