Which statement regarding the Philadelphia chromosome is true?

Study for the Harr Clinical Chemistry Test. Use flashcards and multiple choice questions for each topic covered. Each question includes hints and explanations to help you understand. Prepare effectively for success!

The Philadelphia chromosome is a genetic abnormality that is primarily known for its presence in certain types of leukemia, particularly chronic myelogenous leukemia (CML). It results from a specific chromosomal translocation between chromosomes 9 and 22, where a portion of chromosome 22 is exchanged with a part of chromosome 9. This translocation produces a fusion gene known as BCR-ABL, which leads to the production of an active tyrosine kinase that drives cancer cell proliferation.

This translocation, as opposed to simple mutations or gene deletions, is critical in the development of CML, as it is a well-documented hallmark of this disease. The presence of the Philadelphia chromosome is significant not only for diagnosis but also for targeted therapy approaches using tyrosine kinase inhibitors.

While the Philadelphia chromosome is indeed most commonly associated with chronic myelogenous leukemia, it is also seen in acute lymphoblastic leukemia (ALL) and occasionally in acute myeloid leukemia (AML), which indicates that it is not exclusive to CML. Additionally, the options involving short-arm deletions or poor prognostic outlooks do not directly pertain to the mechanism of how the Philadelphia chromosome arises or its foundational characteristics.

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