A complex chromosome rearrangement forms the BCR-ABL fusion gene in leukemic cells with a normal karyotype.
Chromosome in situ hybridization studies showed that the normal karyotype of leukemic cells from a patient with Ph1-negative, BCR-positive chronic myeloid leukemia (CML) concealed a complex t(9;22;20)(q34;q11;p13). The close association of 5'-BCR and 3'-ABL was demonstrated by field inversion gel electrophoresis, and in situ hybridization showed that BCR-ABL was located on the short arm of chromosome 20. Our findings further indicate that chromosome rearrangement is the cause of BCR-ABL gene fusion in leukemic cells that show a normal karyotype. Results from in situ hybridization studies were consistent with formation of the t(9;22;20) by a two step chromosomal rearrangement, but field inversion gel electrophoresis results indicated a more complex rearrangement.
Morris
C
C
Cytogenetic and Molecular Oncology Unit, Christchurch School of Medicine, New Zealand.
Kennedy
M
M
Heisterkamp
N
N
Columbano-Green
L
L
Romeril
K
K
Groffen
J
J
Fitzgerald
P
P
D000368:Aged; D014408:Biomarkers, Tumor; D002890:Chromosomes, Human, Pair 20 / Q000648:ultrastructure*; D002892:Chromosomes, Human, Pair 22 / Q000648:ultrastructure*; D002899:Chromosomes, Human, Pair 9 / Q000648:ultrastructure*; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000235:genetics*; D015321:Gene Rearrangement; D016313:Genes, abl; D005819:Genetic Markers; D006801:Humans; D007621:Karyotyping; D054438:Leukemia, Myeloid, Chronic, Atypical, BCR-ABL Negative / Q000235:genetics* / Q000473:pathology; D009693:Nucleic Acid Hybridization; D015183:Restriction Mapping; D014178:Translocation, Genetic
D014408:Biomarkers, Tumor; D004273:DNA, Neoplasm; D005819:Genetic Markers; D016044:Fusion Proteins, bcr-abl