A complex three-way translocation with deletion of the TP53 gene in a blast crisis chronic myeloid leukemia patient

Chronic myeloid leukemia (CML) is characterized by the Philadelphia (Ph) chromosome created by the reciprocal translocation t(9;22) (q34;q11), resulting in the chimeric BCR-ABL oncogene. Variant Ph' chromosome translocations involving additional chromosomes are seen in 5-10% of CML cases. In the present study, a novel case of Ph' chromosome-positive CML is reported, with a three-way translocation involving chromosomal regions, 9q34, 22q11.2 and 17p11.2, with additional secondary changes. The three-way translocation has resulted in a deletion of the TP53 gene located on the chromosome 17p13.1 locus. Deletion of the TP53 gene may be a major contributing factor in the development of resistance to imatinib and blast crisis.