The abnormality is characteristic of Chronic Myeloid Leukaemia (CML), found in around 90% of cases but represents a significant abnormality in 30% of adult and 2 to 10% of childhood Acute Lymphoblastic Leukaemia (ALL) cases.
This rearrangement is also seen in rare cases of acute myelogenous leukemia (AML). As a result of the Philadelphia translocation, t(9;22)(q34;q11), the ABL1 (Abelson) proto-oncogene and the BCR (Breakpoint Cluster Region) gene fuse, giving rise to the BCR/ABL1 hybrid or 'fusion' gene. The translocation between chromosomes 9 and 22 can be accompanied by loss of proximal sequence (ASS1/ABL1) and distal 22q found in ALL and rare cases of AML. The establishment of the atypical patterns in the BCR/ABL1 translocation may have detective implications.
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