Publication:

Clinical, immunophenotypic and cytogenetic profile of acute lymphoblastic leukemia in children aged 1–12 years at a tertiary care centre in central India: a prospective observational study

Background Acute leukemias, particularly ALL, constitute one of the most common and curable malignancies in children across India. Their heterogeneity mandates detailed evaluation of clinical, immunophenotypic and cytogenetic features to guide therapy and prognostication. Indian studies highlight variable survival, with rural populations often disadvantaged in access and outcomes.

Methods We conducted a two-year prospective study (2022–2024) at a tertiary center in central India to assess the clinical, immunophenotypic and cytogenetic profile of children (1–12 years) with newly diagnosed ALL. The study compared clinical features, immunophenotypic subtypes and cytogenetic abnormalities between patients with poor outcomes and others to improve diagnostic accuracy, risk stratification and treatment planning in resource-limited settings.

Results This study evaluated 40 pediatric patients with ALL to identify factors influencing clinical outcomes. B-cell ALL was the predominant subtype (82.5%) and was associated with better outcomes compared to T-cell ALL. Extremes of age ( 10 years), high total leukocyte count (>50,000/µl), severe thrombocytopenia and high-risk stratification were significantly associated with poorer outcomes. Immunophenotypic markers suggestive of T-cell lineage and unfavourable cytogenetic abnormalities such as t (9;22) were linked to poorer prognosis, while t (12;21) was associated with favorable outcomes. Overall, only 40% of patients achieved remission, highlighting the need for early risk stratification and close monitoring of high-risk children.

Conclusions Immunophenotypic and cytogenetic profiles significantly influenced patient outcomes. Specifically, T-cell markers (CD3, CD5, CD7) and unfavorable translocations like t (9;22) or t (1;19) were associated with a poor prognosis. Conversely, B-cell markers (CD19, CD10) and the t (12;21) translocation predicted more favorable results. Although the cohort was stratified into standard (22.5%), intermediate (65%) and high-risk (22.5%) groups, the trend linking high-risk status to poorer outcomes was not statistically significant, likely due to the small sample size.