Fig. 3: Clinical data demonstrates the correlation of copy number (CN) signatures with high-risk multiple myeloma prognostic features and complex genomic change. | Nature Communications

Fig. 3: Clinical data demonstrates the correlation of copy number (CN) signatures with high-risk multiple myeloma prognostic features and complex genomic change.

From: Copy number signatures predict chromothripsis and clinical outcomes in newly diagnosed multiple myeloma

Fig. 3

a A heatmap of MM mutational and structural features demonstrates that contribution from CN-SIG4 and CN-SIG5 cluster with features of high-risk MM. Presence of biallelic TP53 inactivation and chromosome 1q21 amplification (i.e., >3 copies) are annotated in dark red; presence of chromothripsis in purple; all the other genomic features are in bright red when present. bg There is a significantly higher median contribution from CN-SIG4 and/or CN-SIG5 on the samples having translocations involving b MAF/MAFB (p = 0.0005), c increased APOBEC mutational activity (p = 9.9e−5), d biallelic TP53 inactivation (p = 1.3e−6), e gain/amplification of chromosome 1q21 (p = 1.3e−8), f chromoplexy (p = 1.7e−7) and g chromothripsis (p = 2.2e−16). Boxplots show median and interquartile range (IQR), with whiskers extending to 1.5 * IQR, n = 752, p-values indicate significance by a 2-sided Wilcoxon rank-sum test. (CN-SIG: copy number signature, neg: lacking the feature, pos: containing the feature, WT: wild type).

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