The Philadelphia chromosome, which is found in leukemic cells in more than 90% of all patients with chronic myeloid leukemia (CML), results from a translocation between chromosome 9 and chromosome 22. On the Philadelphia chromosome, the 5’ end of the gene BCR is fused to the major 3’ part of the gene ABL1. The amplification of the fused gene region by polymerase chain reaction allows the sensitive detection of leukemic cells in patients with CML.

BCR-ABL1 and the Philadelphia chromosome – Part 1: Normal and aberrant karyograms
BCR-ABL1 and the Philadelphia chromosome – Part 3: The BCR-ABL fusion protein
BCR-ABL1 and the Philadelphia chromosome – Part 4: Therapy of tumors with BCR-ABL1 fusion proteins