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. 2025 Mar 10;2(2):100093. doi: 10.1016/j.bneo.2025.100093

Figure 1.

Figure 1.

Genomic landscape and expression profile of pediatric patients with del7 or 7q alterations. (A) Ideogram of Chr7 summarizing deleted regions. Each vertical bar represents the portion of Chr7 lost in a single patient. Genes of interest in red font. Previously established commonly deleted regions highlighted in yellow.3,4,15, 16, 17, 18 (B) Recurrent somatic and germ line SNVs and insertion/deletion events (indels) in patients with AML (n = 494) and MDS (n = 24) with 2 intact copies of Chr7 compared with those in patients with del7 and 7q alterations (n = 108). Genes located on Chr7 are in red font. Statistical significance was assessed by 2-sided Fisher exact test (∗P < .05). (C) Clinical and genomic features of the study cohort with each column representing a single patient. Top section depicts clinical characteristics. Heat map below highlights recurrently mutated genes sorted by functional class. Box and whisker plot representing interquartile range, median, and value range of VAFs for each gene located on the right. (D) Volcano plot of the differentially expressed genes (fold change > 1; FDR < 0.05; 2443 upregulated and 510 downregulated) resulting from a comparison of del7 patients (n = 25) with patients with 2 intact, wild-type copies of Chr7 (AML, n = 494; MDS, n = 24). (E) Top 10 significantly upregulated and downregulated GO terms from the comparison described in panel D. ALAL, acute leukemia of ambiguous lineage; FDR, false discovery rate; GO, gene ontology; ITD, Internal Tandem Duplication; mRNA, messenger RNA; SNV, single-nucleotide variant; VAF, variant allele frequency.