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. 2013 Aug;98(8):1237–1241. doi: 10.3324/haematol.2012.073916

Figure 1.

Figure 1.

(A) Copy number (CN) profiles of 16 pediatric FL. In the x-axis the chromosomes are represented horizontally from 1 to 22, in the y-axis the percentage of cases showing the CN alterations. Gains are represented in the positive y-axis and colored in yellow, whereas losses are represented in the negative y-axis in blue. The most frequent CN alteration was gain/amplification of 6pter-p24.3. (B) Molecular Inverse Probe (MIP)-assay profiles showing CN neutral loss of heterozygosity (CNN-LOH) at 1p36 in the pFL7, pFL10 and pFL14 cases. Allelic events are displayed along the x axis (from pter to qter). Germline homozygosity (e.g. AA, BB alleles) at a given SNP results in calls at the 0 and 1 levels, respectively, germline heterozygosity (AB-alleles) in calls around 0.5 (y-Axis: 0–1). CNN-LOH in the tumor leads to loss of calls around 0.5 and to the presence of allelic imbalance calls derived from a sum of heterozygous normal cell (AB) and homozygous tumor cell (AA or BB) calls for a given locus resulting in values between 0–0.5 or 0.5–1 depending on the amount of cells carrying the aberration. Thus, in the areas with only contribution from one parent (LOH/CNN-LOH), two bands should we expected (0% and 100%->0 and 1.0. y Axis). In the 3 cases (pFL7, pFL10, pFL14), the probes did not reach such thresholds because alterations are detected to be in mosaicism (not germ-line alterations). (C) Summary data of the FISH, CN, CNN-LOH, 1p36, TNFRSF14, EZH2 mutation, IGH clonality, BCL2 expression analyses and DLBCL component for the 18 pediatric FL patients. FISH was considered positive when splits in the BCL2, BCL6, MYC, IRF4 and IGH genes were detected; CN, when chromosomal imbalances were found by MIP-assay or aCGH; 1p36, when CNN-LOH (detected by MIP-assay) or deletions (by MIP-assay and/or aCGH) were observed at that region; TNFRSF14 and EZH2, when mutations were found by direct sequencing; IGH clonality was positive when clonal IGH chain gene rearrangement was detected by PCR; BCL2 expression was positive when more than 25% of the cells were positive. In pFL2 only the region FR3 was evaluable in the IGH PCR reaction. In pFL18 IGH monoclonality was based on an analysis performed in an outside laboratory. CNN-LOH could not be determined in cases 1, 2, 12, 16, 17, and 18.