Detection of bcr-abl Fusion in Chronic Myelogeneous Leukemia by in Situ Hybridization

Chronic myelogeneous leukemia (CML) is genetically characterized by fusion of the bcr and abl genes on chromosomes 22 and 9, respectively. In most cases, the fusion involves a reciprocal translocation t(9;22)(q34;q11), which produces the cytogenetically distinctive Philadelphia chromosome (Ph$^1$)....

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Bibliographic Details
Published in:Science (American Association for the Advancement of Science) 1990-10, Vol.250 (4980), p.559-562
Main Authors: Tkachuk, D. C., Westbrook, C. A., Andreeff, M., Donlon, T. A., Cleary, M. L., Suryanarayan, K., Homge, M., Redner, A., Gray, J., Pinkel, D.
Format: Article
Language:English
Subjects:
Bone marrow
Cancer
Cell lines
Chromosomes
Chromosomes, Human, Pair 22
Chromosomes, Human, Pair 9
Chronic myeloid leukemia
Exons
Fusion Proteins, bcr-abl - genetics
Genes
Genes, abl
Genetic aspects
Genetic hybridization
Genetic screening
Genetic testing
Genetics
Humans
In situ hybridization
Interphase
Leukemia
Leukemia, Myelogenous, Chronic, BCR-ABL Positive - genetics
Medical research
Metaphase
Methods
Myelocytic leukemia
Myeloid leukemia
Nonlymphoid leukemia
Nucleic Acid Hybridization
Philadelphia Chromosome
Polymerase chain reaction
Protein-Tyrosine Kinases
Proto-Oncogene Proteins - genetics
Proto-Oncogene Proteins c-bcr
Translocation, Genetic
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Summary:Chronic myelogeneous leukemia (CML) is genetically characterized by fusion of the bcr and abl genes on chromosomes 22 and 9, respectively. In most cases, the fusion involves a reciprocal translocation t(9;22)(q34;q11), which produces the cytogenetically distinctive Philadelphia chromosome (Ph$^1$). Fusion can be detected by Southern (DNA) analysis or by in vitro amplification of the messenger RNA from the fusion gene with polymerase chain reaction (PCR). These techniques are sensitive but cannot be applied to single cells. Two-color fluorescence in situ hybridization (FISH) was used with probes from portions of the bcr and abl genes to detect the bcr-abl fusion in individual blood and bone marrow cells from six patients. The fusion event was detected in all samples analyzed, of which three were cytogenetically Ph$^1$-negative. One of the Ph$^1$-negative samples was also PCR-negative. This approach is fast and sensitive, and provides potential for determining the frequency of the abnormality in different cell lineages.
ISSN:0036-8075
1095-9203
DOI:10.1126/science.2237408