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Chronic Myelogenous Leukemia (CML) is closely linked to the presence of the Philadelphia chromosome, which is the result of a specific genetic mutation. This mutation involves a translocation between chromosomes 9 and 22, leading to the fusion of the BCR gene on chromosome 22 and the ABL gene on chromosome 9, resulting in the BCR-ABL fusion protein that promotes cancerous cell proliferation.
Studies have shown that approximately 95% of patients with CML exhibit this Philadelphia chromosome, making it a key biomarker for the disease. This high prevalence means that the detection of the Philadelphia chromosome is an essential part of the diagnosis and treatment planning in CML cases. Monitoring the presence and levels of this chromosome can also provide insights into treatment efficacy and disease progression.
The high association of the Philadelphia chromosome with CML is a defining feature of the disease and plays a significant role in understanding its pathology, guiding therapeutic approaches, and assessing prognosis.