1. Identification of Somatic Mutations in Primary Cutaneous Diffuse Large B-Cell Lymphoma, Leg Type by Massive Parallel Sequencing 
Sylvain Mareschal, Anne Pham-Ledard, Pierre Julien Viailly, Sydney Dubois, Philippe Bertrand, Catherine Maingonnat, Maxime Fontanilles, Elodie Bohers, Philippe Ruminy, Isabelle Tournier, Philippe Courville, Bernard Lenormand, Anne Bénédicte Duval, Emilie Andrieu, Laurence Verneuil, Beatrice Vergier, Hervé Tilly, Pascal Joly, Thierry Frebourg, Marie Beylot-Barry, Jean-Philippe Merlio, Fabrice Jardin 
Journal of Investigative Dermatology 
Volume 137, Issue 9, Pages (September 2017)
DOI: /j.jid
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2. Figure 1
Genes significantly mutated in 12 PCLBCL-LT patients analyzed by whole-exome sequencing. (a) Variant count for each individual patient. (b) Individual somatic events are reported as colored symbols, with an optional white number signaling multiple events of the same category. Genes are listed in rows. The left panel presents the FDR of each gene as computed by MuSiC SMG (Dees et al., Genome Res 2012) (see Supplementary Materials), considering an FDR less than 10% as significant. Gene symbols marked with a star were also sequenced as part of the lymphoma panel. The right panel visually summarizes the mutated patient count for each gene, and compares it with the proportions of mutated samples described in various whole-exome and whole-genome DLBCL studies. DLBCL, diffuse large B-cell lymphoma; FDR, false discovery rate; PCLBCL-LT, primary cutaneous diffuse large B-cell lymphoma, leg type; SNV, single-nucleotide variant.
Journal of Investigative Dermatology  , DOI: ( /j.jid )
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3. Figure 2
Complete copy number analysis of the 12 PLCBCL-LT patients analyzed by WES. CNV and LOH events are presented as colored bands, sorted by chromosome and sample. (The figure key is available in the bottom right corner.) The assessed regions are visualized with vertical gray bars for each sample; sex chromosomes were not analyzed. Giemsa banding as provided by the University of California, Santa Cruz, is represented for each chromosome, with centromeric regions colored in red. The detailed CNV/LOH profile of each patient is presented in Supplementary Figure S3 online. CNLOH, copy-neutral loss of heterozygosity; CNV, copy number variation; DLBCL, diffuse large B-cell lymphoma; LOH, loss of heterozygosity; PCLBCL-LT, primary cutaneous diffuse large B-cell lymphoma, leg type; WES, whole-exome sequencing.
Journal of Investigative Dermatology  , DOI: ( /j.jid )
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4. Figure 3
Overview of the somatic mutations and CNV alterations detected by targeted sequencing. Each column represents one sample (sample names at the bottom), and each line represents one gene within the lymphoma panel. These genes are shown on the left and are organized by pathway with a color code. Mutations observed for each gene are indicated in the appropriate cell by color-coded symbols (legend at bottom of the figure). CNVs observed for each gene are indicated by shading of the appropriate cell: red shading indicates deletions, and blue shading indicates gains or amplifications. BCR, B-cell receptor; CNV, copy number variation; MAP, mitogen-activated protein; SNV, single-nucleotide variant; STAT, signal transducer and activator of transcription; UTR, untranslated region.
Journal of Investigative Dermatology  , DOI: ( /j.jid )
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5. Figure 4
Heat map of mutation frequencies by DLBCL subtypes. Mutation frequencies in each subtype are indicated for each gene of the lymphoma panel. Mutation frequencies per gene and per subtype are shown here as the percentage of the total number of patients presenting at least one mutation. Statistical significance of gene mutation enrichment in any subtype is indicated in the false discovery rate (FDR) column. The horizontal line separates genes with FDR < 0.05, considered as significant, from genes with FDR ≥ Bold text indicates FDR values < Mutation rates in nodal activated B-cell (ABC), primary mediastinal B-cell (PMBL), and germinal center B-cell (GCB) subtypes have been published in Dubois et al. (2016b). Mutation rates in primary central nervous system lymphoma (PCNSL) have been obtained by the same methodology (Fontanilles et al., e-pub ahead of print). DLBCL, diffuse large B-cell lymphoma; PCLBCL-LT, primary cutaneous diffuse large B-cell lymphoma, leg type.
Journal of Investigative Dermatology  , DOI: ( /j.jid )
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6. Figure 5
Schematic representation of somatic mutations targeting TBL1XR1, IKZF3, and KLHL6 genes in 27 PCLBCL-LT patients. Positions of mutations are indicated according to protein domains (reference transcript number NM_024665, NM_012481, and NM_ respectively). AA, amino acid; BACK, BTB and C-terminal Kelch; LisH, lis homology domain; PCLBCL-LT, primary cutaneous diffuse large B-cell lymphoma, leg type; ZF, zinc finger.
Journal of Investigative Dermatology  , DOI: ( /j.jid )
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7. Figure 6
Correlation between genes found mutated in PCLBCL-LT, as identified by targeted sequencing. (a) A chord diagram represents the combinations of mutations in different genes ( (b–d) Hierarchical clustering was performed among the most frequently mutated genes to represent (b) the associated mutations, (c) copy number variations, or (d) both. Numbers within the clustering represent the percentage of patients presenting simultaneous mutations of the two genes presented in row and column. PCLBCL-LT, primary cutaneous diffuse large B-cell lymphoma, leg type.
Journal of Investigative Dermatology  , DOI: ( /j.jid )
Copyright © 2017 The Authors Terms and Conditions