Abstract
B-Acute lymphoblastic leukemia (B-ALL) represents a heterogeneous spectrum of lymphoid disorders and stands as the most common hematological malignancy affecting both children and adults. The diagnosis generally based on morphological criteria as well immunophenotyping, while molecular approaches provide highly valuable clinical and prognostic information. In this study, our aim was to investigate IGH, IGK-Kde, and IKZF1 genes as molecular markers to enhance the accuracy of B-ALL diagnosis. Therefore we explored 63 B-ALL Tunisian cases, using multiplex PCR assay according to BIOMED-2 condition. 34 clonal IGH gene rearrangements, 22 clonal IGK-Kde, 4 IKZF1 gene deletions and 2 simultaneous IG/IKZF1 recombination were identified. These findings confirm both the clonal proliferation and the B-lymphoid lineage origin. The use of IGH, IGK-Kde and IKZF1 markers will be introduced for the first time in Tunisian laboratories for molecular characterization of B-ALL and subsequently for the monitoring of minimal residual disease which is an important determinant for patients outcome. The implementation of molecular profiling of B-ALL trough assessing IGH, IGK-Kde, and IKZF1 markers will rise the challenge for efficient minimal residual disease monitoring and patient outcomes evaluation.