Which genetic abnormality is commonly associated with chronic myeloid leukemia?

Chronic myeloid leukemia (CML) is predominantly associated with the Philadelphia chromosome, which results from a translocation between chromosome 9 and chromosome 22, denoted as t(9;22). This genetic abnormality leads to the formation of the BCR-ABL fusion gene, which encodes a tyrosine kinase that promotes cell proliferation and inhibits apoptosis, contributing to the pathogenesis of CML.

The presence of the BCR-ABL fusion gene is a hallmark of CML and is used as a key diagnostic marker for the disease. In patients with CML, this genetic abnormality can be detected in the majority of cases and has significant implications for treatment, as it can be targeted by specific therapies such as tyrosine kinase inhibitors.

Understanding the Philadelphia chromosome's role in CML is crucial, as it is a critical component of the disease's molecular basis and influences management strategies, ultimately improving patient outcomes.