Biomarker
BCR-ABL
Also known as: Philadelphia chromosome, BCR-ABL fusion, BCR-ABL1
Definition
An abnormal fusion gene created by a chromosomal translocation (Philadelphia chromosome), which drives chronic myeloid leukemia (CML).
Detailed Explanation
The BCR-ABL fusion gene produces an abnormally active tyrosine kinase protein that causes uncontrolled cell growth in CML. This discovery led to the development of targeted TKIs like imatinib (Gleevec), dasatinib, nilotinib, and asciminib (Scemblix). These drugs specifically inhibit the BCR-ABL protein, effectively controlling CML in most patients.