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What is a hallmark genetic marker associated with Chronic Myelogenous Leukemia (CML)?

Philadelphia chromosome

The Philadelphia chromosome is a specific genetic marker that is classically associated with Chronic Myelogenous Leukemia (CML). This abnormality occurs due to a translocation between chromosome 9 and chromosome 22, resulting in the fusion gene BCR-ABL. The presence of this fusion gene leads to continuous activation of signals promoting cell division and survival, which is a driving force in the development of CML.

Identifying the Philadelphia chromosome is crucial in diagnosing CML as it confirms the disease's presence and influences treatment decisions. The understanding of this genetic marker has also paved the way for targeted therapies, such as tyrosine kinase inhibitors, which specifically inhibit the activity of the BCR-ABL protein, thus providing a more effective treatment option for patients with CML.

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BRCA1 mutation

TP53 mutation

JAK2 mutation

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