International Journal of Hematology and Oncology 2024, Vol 34, Num 1 Page(s): 014-020
Minimal Residual Disease Assessment and Genetic Alterations in Childhood Acute Lymphoblastic Leukemia

Elif Habibe AKTEKIN1, Ilknur KOZANOGLU2, Feride Iffet Sahin3, Ayse ERBAY1, Nalan YAZICI1

1Baskent University, Faculty of Medicine, Department of Pediatric Hematology-Oncology
2Baskent University, Faculty of Medicine, Department of Physiology and Apheresis Unit Adult Bone Marrow Transplant Centre
3Baskent University, Faculty of Medicine, Department of Medical Genetics

Keywords: Acute lymphoblastic leukemia, Chromosomal abnormalities, Minimal residual disease, Survival
In pediatric acute lymphoblastic leukemia(ALL), we know that early treatment response and favorable genetic alterations are important in disease free survival and overall life expectancy. In this study we tried to find some associations regarding genetic alterations and flowcytometric feature, minimal residual disease (MRD), in survival of children with ALL. Overall, 92 ALL patients were detected at medical records. Sixty six of them completed induction treatment at our center. Initial leukocyte count, lymphoblast count on day 8, remission evaluation of bone marrow on days 15 and 33, karyotype and cytogenetic analysis were retrospectively evaluated. 83.2% of patients were B-ALL. Of 66 patients whose remission induction was completed, 40 were included in intermediate risk group. Nu- merical chromosomal abnormalities were detected in 20 patients; whereas structural chromosomal abnormality in 34. In patients with numeric and structural abnormality, 2 patients were dead in each group. Besides in 30 patients with no structural abnormality, 7 of them were dead at time of analysis. The 5-year event-free survival of 66 patients was 71.4% (p< 0.001) and overall survival was 87.5% (p< 0.001). Event-free and overall survival were significantly higher in patients with lower 15th and 33rd day MRD analysis (p< 0.001). There may be some discordance between MRD and genetic abnormalities in few cases; but better results can be obtained with MRD lower than 10–4 during induction. There are still factors that have been undetermined in prediction of prognosis in ALL. Targeted per- sonalized treatments with detailed genetic and cellular analysis would be the future in leukemia.