Chronic myeloid leukemia (CML) diagnosis relies heavily on laboratory analysis of blood samples. A complete blood count (CBC) often reveals elevated white blood cell counts, including immature cells like myeloblasts. Further investigation with a bone marrow biopsy and cytogenetic analysis, specifically looking for the Philadelphia chromosome, confirms the diagnosis. A typical laboratory report might show a significantly increased white blood cell count, the presence of the BCR-ABL1 fusion gene, and potentially lower than normal red blood cell and platelet counts. Illustrative cases often demonstrate the progression of these values from initial diagnosis through treatment.
Evaluating these hematological and genetic markers is crucial for accurate diagnosis, prognosis, and treatment monitoring. The presence and quantity of the BCR-ABL1 fusion gene, for instance, directly inform treatment decisions and help clinicians assess treatment response. Historically, the identification of the Philadelphia chromosome revolutionized CML diagnosis, moving away from less specific methods. This advancement, coupled with the development of targeted tyrosine kinase inhibitors, dramatically improved patient outcomes and transformed CML management into a chronic, manageable condition for many.
