Figure 2.
Conventional CCND2 rearrangement in a cyclin D2+ MCL. (A) Circos plot with interchromosomal SVs detected by MP-WGS (black lines) and CNA detected by copy-number arrays (blue for gains and red for losses) in case ID76. The conventional IGK/CCND2 reciprocal translocation is indicated with 2 discontinuous lines for both derivative chromosomes. Among other SV, 12 clustered rearrangements were found between chromosomes 3 and 13 (at both regions of high copy gain). (B) A representative metaphase and the karyotype with the IGK/CCND2 rearrangement (black discontinuous arrows) and other numerical and structural aberrations concordant with the results of MP-WGS and copy-number array: trisomy 7; loss of chromosome 9; and 2 marker chromosomes consistent with some of the rearranged chromosomes. (C) Schematic representation of the derivative chromosomes resulting from the translocation and zoomed image of CCND2 locus. *All breakpoints were estimated from MP-WGS analysis (chr2 in orange, containing the IGK enhancer and chr12 in blue containing the CCND2 gene).