Identification of IKZF1plus microdeletion profile in childhood B-cellprecursor acute lymphoblastic leukemia (BCP-ALL) using singlenucleotide polymorphism (SNP) array

Genetic abnormalities detected in the leukemic genome became essential prognostic factors stratifying the intensity of treatment in children with acute lymphoblastic leukemia (ALL). However, only selected copy number alterations are independently associated with the clinical course of disease. Deletions within the IKZF1 gene significantly confer to poor dzieprognosis of ALL, particularly when cooccurred with deletions of CDKN2A/ B, PAX5, and genes from PAR1 region and the concomitant lack of ERG gene deletion is present. In the project, high-density SNP array were tested on 195 childhood BCP-ALL samples to optimize the detection of copy number alterations within selected gene loci. Developed experimental protocol and data analysis enabled identification of clonal and mosaic forms of IKZF1 deletions.