What genetic mutation is commonly associated with chronic myeloid leukemia (CML)?

Chronic myeloid leukemia (CML) is notably associated with a specific genetic alteration known as the Philadelphia chromosome, which results from a translocation between chromosomes 9 and 22. This genetic event fuses the BCR gene on chromosome 22 with the ABL gene on chromosome 9, creating a hybrid BCR-ABL gene that encodes for a constitutively active tyrosine kinase. This active kinase drives the proliferation of myeloid cells and inhibits apoptosis, leading to the accumulation of these cells characteristic of CML.

The presence of this translocation can be detected using various diagnostic techniques, such as karyotyping or fluorescence in situ hybridization (FISH), and it serves as a critical marker for diagnosing and monitoring CML as well as targeting specific therapies, like tyrosine kinase inhibitors. Understanding the underlying genetic mutation is essential for studying the pathophysiology of CML and developing effective treatment strategies.