Which type of leukemia is specifically linked to the presence of the Philadelphia Chromosome?

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The presence of the Philadelphia chromosome is most specifically linked to chronic myeloid leukemia (CML). The Philadelphia chromosome is formed by a translocation between chromosome 9 and chromosome 22, leading to the creation of the BCR-ABL fusion gene. This fusion gene is a constitutively active tyrosine kinase that plays a crucial role in the pathogenesis of CML by promoting cell proliferation and inhibiting apoptosis in myeloid cells.

In CML, the Philadelphia chromosome is found in approximately 95% of patients, making it a hallmark of the disease. The identification of this genetic alteration has significant implications for diagnosis and treatment, as therapies targeting the BCR-ABL fusion protein, such as imatinib, have transformed management and outcomes for individuals with CML.

The other leukemias listed have different underlying genetic abnormalities or chromosomal alterations not associated with the Philadelphia chromosome. For example, acute lymphoblastic leukemia (ALL) also has some association with the Philadelphia chromosome, but it is not as significant as in CML. Acute myeloid leukemia (AML) and chronic lymphocytic leukemia (CLL) are associated with other genetic changes and do not typically involve the Philadelphia chromosome in their pathogenesis.

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