The Philadelphia chromosome is associated with which type of leukemia?

The Philadelphia chromosome is primarily associated with chronic myelogenous leukemia (CML). This chromosome is formed through a translocation between chromosomes 9 and 22, which results in the fusion of the BCR gene from chromosome 22 with the ABL gene from chromosome 9. This fusion gene creates a tyrosine kinase that drives the unregulated proliferation of hematopoietic cells, leading to the characteristic features of CML.

Patients with CML often present with increased white blood cell counts, splenomegaly, and can progress through various phases of the disease if untreated. The presence of the Philadelphia chromosome is a significant marker for confirming the diagnosis of CML and also plays a role in treatment decisions, as targeted therapies are effective against the abnormal protein produced by the BCR-ABL fusion. This association emphasizes the importance of genetics in diagnosing and treating hematological malignancies, particularly CML, making it critical for medical technologists and professionals in hematology to be aware of this translocation and its implications.