Mutational profiling of human primary EP. (A) Histologic H&E stains of 2 exemplary human primary EP included in the WES analysis. Note extramedullary localization of neoplastic PCs. Scale bar, 20 µm. (B) Oncoplot of mutations in 11 primary EP showing color-coded mutations in cancer candidate genes (right) and their frequency compared with MM (left). Number of nonsynonymous mutations for each sample is shown at the top. (C) Location of mutations in exemplary affected proteins in EP and MM. Colors represent mutation types as in panel B. Exemplary histograms from Sanger sequencing validating KRAS G12R and TRAF3 R505* mutations in EP8 and EP1, respectively, are shown. (D-E) Frequency of chromosomal arm-level gains (D) and losses (E) in EP in relation to MM. Note that del(13q) is the most common chromosomal alteration in EP and that frequency of chromosomal gains is lower in EP than in MM. (F) Circos plot of chromosomal rearrangements identified by fluorescence ISH. (G) Summary of genetic alterations identified in EP presented as color-coded matrix. Hierarchical clustering was done using 1 − the Pearson correlation. Expression of miR-15a and miR-16 determined using RT-qPCR relative to U6 is shown as heatmap at the bottom. SV, structural variation.