BCRABLfuusiogeenin

BCRABL fusion gene, also known as the Philadelphia chromosome, is a specific genetic abnormality that arises from a reciprocal translocation between chromosome 22 and chromosome 9. This translocation, denoted as t(9;22)(q34;q11), results in the fusion of the BCR gene from chromosome 22 with the ABL1 gene from chromosome 9. The resulting fusion gene, BCRABL, produces an abnormal protein with unregulated tyrosine kinase activity. This aberrant protein plays a critical role in the pathogenesis of certain hematologic malignancies, most notably chronic myeloid leukemia (CML) and a subset of acute lymphoblastic leukemia (ALL). The uncontrolled kinase activity drives the excessive proliferation and survival of white blood cells, leading to the development of leukemia. The BCRABL fusion gene is considered a hallmark diagnostic marker for CML and is a key target for targeted therapy. Drugs known as tyrosine kinase inhibitors (TKIs) specifically inhibit the activity of the BCRABL protein, effectively controlling the disease in most patients. However, resistance to TKIs can develop over time through secondary mutations in the BCRABL gene.