Figure 1
Heatmaps ofCNAs in 18 relapsed E/R-positive leukemias. (A) Overview of somatic CNA in diagnosis and relapse samples. Copy number changes are mapped according to their chromosomal position and indicated by color (blue represents losses; and red, gains) for each chromosome from 1 to X (row) and each sample (column). Each row represents a segment of the genome with a CNA across samples. Regions in the genome without CNA events are not shown in the heatmap. Each column is labeled with the patient IDs at the bottom of the graph, and sample types are indicated by the color bars: white represents diagnosis; and gray, relapse. Samples with and without paired remission samples are separated by a bold vertical line. (B-C) Heatmaps for recurrent genomic deletions were constructed by zooming in on genes of interest and plotting along chromosomal coordinates (y-axis) color-coded presence (blue for monoallelic/black for biallelic) and absence (white) of deletions. Deletions of tumor suppressor genes and cell differentiation markers at 12p13.2 (ETV6, BCL2L14, CDKN1B), 12q21.33 (BTG1), 9p21.3 (CDKN2A/B), 9p13.2 (PAX5), 5q33.3 (EBF1), and 7p12.2 (IKZF1) are shown in panel B, and deletions of genes implicated in GC signaling and MMR at 5q31.3 (NR3C1), 4q31.22 (NR3C2), 2p21 (MSH2), 3p21.3 (MLH1), and 15q15.1 (BMF) are shown in panel C. Genome position (Mb) according to the University of California Santa Cruz Genome Browser (NCBI Build 36.1) is given for each graph.

Heatmaps ofCNAs in 18 relapsed E/R-positive leukemias. (A) Overview of somatic CNA in diagnosis and relapse samples. Copy number changes are mapped according to their chromosomal position and indicated by color (blue represents losses; and red, gains) for each chromosome from 1 to X (row) and each sample (column). Each row represents a segment of the genome with a CNA across samples. Regions in the genome without CNA events are not shown in the heatmap. Each column is labeled with the patient IDs at the bottom of the graph, and sample types are indicated by the color bars: white represents diagnosis; and gray, relapse. Samples with and without paired remission samples are separated by a bold vertical line. (B-C) Heatmaps for recurrent genomic deletions were constructed by zooming in on genes of interest and plotting along chromosomal coordinates (y-axis) color-coded presence (blue for monoallelic/black for biallelic) and absence (white) of deletions. Deletions of tumor suppressor genes and cell differentiation markers at 12p13.2 (ETV6, BCL2L14, CDKN1B), 12q21.33 (BTG1), 9p21.3 (CDKN2A/B), 9p13.2 (PAX5), 5q33.3 (EBF1), and 7p12.2 (IKZF1) are shown in panel B, and deletions of genes implicated in GC signaling and MMR at 5q31.3 (NR3C1), 4q31.22 (NR3C2), 2p21 (MSH2), 3p21.3 (MLH1), and 15q15.1 (BMF) are shown in panel C. Genome position (Mb) according to the University of California Santa Cruz Genome Browser (NCBI Build 36.1) is given for each graph.

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