The IKAROS/COBL connection

We have investigated patients with Ikaros deletions (IKZF1Δ) at 7p12. IKZF1Δ mutations are correlated with a differentiation block in normal B-cell devlopment and frequently diagnosed in preB cell ALL and BCR-ABL+ ALL leukemia patients. Here, we focussed on the analysis of patients with whole gene deletions of IKZF1. Our preliminary results demonstrated that all these deletion started within intron 5 of the COBL gene. Additionally, IKZF1-COBL fusions were recurrently identified in different leukemia patients (n = 2). While breakpoints are clustering in the already described hotspot of Ikaros, all deletions clust…