Figure 1.
Characterization of the breakpoints derived from the t(14;19) at base-pair resolution. (A) Representation of the breakpoints on chromosome 19 (chr19) and chr14 for each patient (red vertical Line). Unmutated variable region of the immunoglobulin heavy chain gene (U-IGHV) and mutated IGHV (M-IGHV) tumors are represented in gray and black labels, respectively. Tumors are classified based on the breakpoint on chromosome 19 (chr19): further upstream BCL3 (pale blue), upstream BCL3 (blue), and downstream BCL3 (orange). (B) Schema of the most recurrent translocation pattern observed in the upstream BCL3 subgroup with IGH and its corresponding class switch recombination (CSR) located upstream BCL3, suggesting a constitutive upregulation of BCL3. (C) Depiction of 5 patients, 1 with the translocation further upstream BCL3 and 4 with the translocation downstream BCL3. In the further upstream tumor (3698), the t(14;19) truncates CEACAM16 and, similar to upstream BCL3 translocations, IGH is located 5' of BCL3 suggesting a constitutive upregulation of this gene. In the downstream tumors, the t(14;19) affects 3 different genes (CBLC, BCAM, NECTIN2) located downstream of BCL3. The resulting derivatives of the t(14;19) suggest that BCL3 is not placed under the regulation of the enhancers of the IGH and, therefore, its expression remains unchanged.