Chronic Myelogenous Leukemia (CML) is a hematological malignancy originating from the neoplastic transformation of a hematopoietic stem cell. Its defining feature is the presence of the Philadelphia chromosome, resulting from the t(9;22)(q34;q11) translocation, which leads to the formation of the BCR-ABL fusion gene.
The disease typically begins with a chronic phase characterized by the expansion of granulocytic cells and can last several years. Without appropriate management, CML may progress to an advanced blast phase, marked by impaired cell differentiation and a significant increase of immature blast cells in blood or bone marrow.
Accurate molecular detection of the BCR-ABL fusion gene is essential for diagnosis, disease monitoring, and evaluation of treatment response, supporting effective clinical management and improved patient outcomes.
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