Cytogenetic pattern profiling in cases of Acute Lymphoblastic Leukemia in pediatric age group

Abstract Introduction Acute lymphoblastic leukemia (ALL) comprises about 70–80% of childhood leukemia. The present work was undertaken to study the spectrum of chromosomal abnormalities in North Indian population in haematologically confirmed pediatric ALL patients using bone marrow aspirates. Methods Bone marrow aspirates (0.6 ml) after adding 15 ml RPMI medium were divided into three parts for immediate culture, 24 h culture and 48 h culture method, were incubated according to their respective time duration and karyotyping was done. Results Out of 20 cases results were obtained in 14 cases. Out of these 9 cases (64.2%) in present study belonged to hypodiploid group. Trisomy was found in 3 (21.42%) cases and polyploidy in 1 (7.1%) case. Three year old male patient showed translocation t (21; 4) with deletion of long arm of chromosome 5 and absence of 7, 11, 12 and Y chromosomes. 4 Year old male patient showed translocation involving chromosome 13 with absence of chromosomes 7, 10, 11 and 12.5 year old male patient showed one dicenteric 5 chromosome with additional copies of chromosomes 6, 8, 9, 21 and 22. Discussion Numerical and structural chromosomal abnormalities found in Acute Lymphoblastic Leukemia have prognostic significance. Review of world literature shows that there is geographical variation in ploidy pattern of ALL. Our findings will help to play a key role in risk stratification and treatment protocols considering the genetic diversity of pediatric ALL in North Indian population.