Molecular Profile of Pediatric Acute Lymphoblastic Leukemia: A retrospective study from Tertiary Care Centre of Kashmir

Introduction: Acute lymphoblastic leukemia (ALL) is the most common type of neoplastic disorder diagnosed in childhood.It accounts for 25% of all childhood cancers and approximately 75% of all cases of childhood leukemia.Immunophenotypes, cytogenetics and molecular profile of ALL are documented prognostic factors.Objective was to study the immunophenotype, cytogenetics and molecular profile of pediatric patients with ALL.Methodology: This retrospective study was conducted in the department of Medical Oncology, Sher I Kashmir Institute of Medical Science, Srinagar, Jammu and Kashmir, based on the details of all the newly diagnosed cases of ALL in children aged between 0 -18 years from 1st June 2016 to 30th November 2023.Results: Total of 232 patients were diagnosed with ALL during the time period.Mean age was 8 yrs with male to female ratio of 1.4:1.Immunophenotypically Pre B ALL, B ALL, T ALL were 78.5%, 6.5%, 15% respectively.Cytogenetics were done on 75% patients with normal, hyperdiploidy, hypodiploidy as 71%,3%, 6% respectively.Mutation analysis revealed TEL-AML, BCR-ABL, MLL gene positivity in 15%(n=36), 7.8%(n=18), 3.9%(n=9) patients respectively.EFS of Pre B ALL, B ALL, T ALL were 95 months, 92 months, 91 months respectively.EFS for normal cytogenetics, hyperdiploidy, and hypodiploidy were 96 months, 97 months, 90 months (p=0.5)respectively.EFS for TEL-AML positive Vs negative was 85 Vs 97 months, BCR-ABL positive vs negative was 82 Vs 97 months, MLL positive Vs negative was 30 Vs 98 months which were statistically significant. Conclusion:Our study found that mutation profiles bear significant prognostic impact but not the immunophenotype or the cytogenetics.