Describe the approach to laboratory diagnosis of chronic myeloid leukemia - chronic phase.
The laboratory diagnosis of chronic myeloid leukemia (CML) in the chronic phase relies on a multi-step approach, with identification of the Philadelphia (Ph) chromosome being central.
Complete Blood Count (CBC) with Differential: Often the first clue, showing marked leukocytosis (>100,000/µL) with a left shift (myelocytes, metamyelocytes, bands), basophilia, eosinophilia, variable platelet counts, and mild to moderate anemia.
Peripheral Blood Smear: Confirms CBC findings, revealing immature granulocytes, basophilia, eosinophilia, and blasts <10%.
Bone Marrow Examination: Shows hypercellularity, prominent granulocytic hyperplasia, high myeloid-to-erythroid ratio (>10:1), and blasts <10%.
Cytogenetics (Karyotyping): The definitive test identifies t(9;22)(q34;q11), producing the BCR-ABL1 fusion gene, pathognomonic for CML.
Molecular Studies (FISH or RT-PCR): Highly sensitive for BCR-ABL1. FISH visualizes the fusion on chromosomes; RT-PCR detects mRNA transcripts, confirming diagnosis, quantifying disease burden, and monitoring treatment response, essential for patient management.
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