Morris C, Kennedy M, Heisterkamp N, Columbano-Green L, Romeril K, Groffen J, Fitzgerald P
Cytogenetic and Molecular Oncology Unit, Christchurch School of Medicine, New Zealand.
Genes Chromosomes Cancer. 1991 Jul;3(4):263-71. doi: 10.1002/gcc.2870030405.
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.
