Integrated Immunophenotyping and Gene Fusion Analysis in Pediatric Acute Lymphoblastic Leukemia: A Tertiary Care Hospital Study

Background: Pediatric Acute Lymphoblastic Leukemia (ALL) is a complex hematologic malignancy characterized by the uncontrolled proliferation of immature lymphoid cells. Early diagnosis and precise classification are crucial for effective treatment and prognosis. This study aims to evaluate the utility of integrated immunophenotyping and gene fusion analysis in the diagnosis and stratification of pediatric ALL at a tertiary care hospital. Methods: We analyzed clinical and laboratory data from a cohort of 50 pediatric ALL patients, applying immunophenotyping techniques to characterize cell surface markers and identifying relevant gene fusions associated with various subtypes of the disease. All statistical analysis was performed using SPSS v30, incorporating both parametric and non-parametric variables. Result: Immunophenotyping of the 50 patients revealed that 90% had B-ALL, while the remaining 10% had T-ALL or mixed lineage phenotypes. Q-PCR analysis detected gene fusion positivity in 58% of cases, including key fusions associated with high-risk subtypes. These findings underscore the value of integrating immunophenotyping and molecular diagnostics for accurate classification and risk stratification in pediatric ALL. Our results highlight the role of these diagnostic tools in improving the accuracy of ALL classification, identifying high-risk genetic alterations, and guiding therapeutic decisions. Conclusion: This study emphasizes the importance of combining immunophenotyping with molecular techniques for comprehensive diagnostic and prognostic assessments in pediatric ALL, offering a deeper understanding of the disease's pathogenesis and supporting personalized treatment approaches.