Genetic diversity and variation in chronic myeloid leukemia patients of Indian origin- Implications for treatment response and prognosis

Chronic myeloid leukemia (CML) is a prevalent blood malignancy characterized by the breakpoint cluster region - abelson tyrosine kinase gene translocation (BCR-ABL1) fusion gene. In India, CML accounts for a significant portion of adult leukemias, with a notable male preponderance and an increasing trend in young adult patients. Most patients present in the chronic phase, and the Sokal/European treatment and outcome study score (EUTOS)/Hasford scoring systems may be used for risk stratification. The advent of imatinib revolutionized CML treatment, making it more accessible, although challenges such as intolerance and treatment failure persist. Cytogenetic analysis is essential for diagnosis and monitoring, with molecular assessments indicating treatment response. Compliance plays a crucial role in achieving optimal outcomes, with non-adherence associated with poorer prognosis. Mutational analysis aids in treatment decisions for patients with suboptimal response to tyrosine kinase inhibitors, revealing resistance patterns. Toxicity profiles resemble Western data, with anemia being the most common hematological toxicity. Despite limitations in resources and late presentations, Indian CML outcomes mirror Western standards, highlighting the importance of standardized cytogenetic testing for improved clinical outcomes.