Normalized copy number variation analysis of paired FCL and DLBCL samples using array CGH.

The figures represent the normalized copy number ratios of genomic DNAs from patients IL120 (A) and IL114 (B). For each figure, the initial FCL biopsies are placed above the posttransformation biopsies (lower panel). Data are plotted as the mean log₂ ratio of the triplicate spots for each clone normalized to the genome median log₂ ratio. The BAC and P1 clones are ordered by position in the genome, beginning at chromosome 1p and ending at chromosome Xq. Borders between chromosomes are indicated by vertical bars. Arrows indicate genomic changes, which are summarized in Table 1. (A) In both samples from the case IL120, gain of chromosome 18q confirms the clonality of the paired biopsies. In addition, a deletion of approximately 2.3 Mb in 11p14 and a single-copy DNA gain of approximately 1 Mb in 15q14 also were seen. In the transformed biopsy, novel changes included the loss of the terminal portion of chromosome 1p36 (sized approximately 10 Mb), deletion of approximately 1 Mb involving the RB gene locus in 13q14, and gain of the whole arm of chromosome 17. (B) The FCL biopsy from the case IL114 (tumor cell population of 85%) is shown. According to the defined log₂ ratios, no changes were observed in the FCL sample. In the transformed biopsy, a number of acquired aberrations are seen, including single-copy DNA alterations of chromosomes 6, 11, and 16, and high-level amplification affecting 1q24 (clone RP11-184N12; log₂ ratio + SD, + 1.7 + 0.036), 2p16 (REL/BCL11A gene locus; log₂ ratio + SD, + 1.67 + 0.068), and 12q12 (clone RP11-29G23; log₂ratio + SD, +0.96 + 0.059).