Chronic Myeloid Leukemia: Early Identification and the Role of Cytogenetics in Diagnosis, Chronic Fatigue, and Splenomegaly

Chronic myeloid leukemia (CML) is a hematological neoplasm characterized by the uncontrolled proliferation of myeloid cells. This disease accounts for approximately 15% to 20% of leukemias in adults and is typically associated with the presence of the Philadelphia chromosome, resulting from a translocation between chromosomes 9 and 22, which generates the BCR-ABL oncogene. Early identification of CML is crucial for improving prognosis and quality of life for patients, and in this context, cytogenetics plays a fundamental role in the diagnosis and monitoring of the disease.

The Role of Cytogenetics in the Diagnosis of CML

The diagnosis of CML is based on the detection of the Philadelphia chromosome or the BCR-ABL fusion gene through cytogenetic and molecular techniques. Conventional cytogenetics, via karyotyping, allows for the identification of the t(9;22) translocation and other possible chromosomal abnormalities that may influence the prognosis of the disease. Studies have shown that the presence of additional chromosomal abnormalities can be an indicator of disease progression and resistance to treatment with tyrosine kinase inhibitors (TKIs) such as imatinib [1].

Furthermore, the use of techniques such as fluorescence in situ hybridization (FISH) and real-time polymerase chain reaction (qRT-PCR) enables more sensitive and specific detection of minimal residual disease, which is essential for monitoring treatment response and early identification of resistance [2]. The identification of an early molecular response to TKIs is associated with better clinical and cytogenetic outcomes [3].

Conclusions

Early identification of CML and continuous monitoring through cytogenetic and molecular techniques are essential for optimizing disease management. Cytogenetics not only confirms the initial diagnosis but also provides valuable information regarding prognosis and disease evolution. The integration of these methods into daily clinical practice can significantly improve outcomes for patients with CML, allowing for more precise and timely therapeutic interventions.

Referencias

• [1] Additional chromosomal abnormalities in Philadelphia-positive chronic myeloid leukemia
• [2] Monitoring disease burden in chronic myeloid leukemia: Past, present, and future
• [3] The early molecular response to imatinib predicts cytogenetic and clinical outcome in chronic myeloid leukaemia

Created 13/1/2025