Fig. 3

Tumor TSC2 point mutation. Targeted NGS revealed one frameshift mutation in TSC2 gene (c.2739dup; p.K914*) absent in the patient’s blood (a) and present in the liver metastasis (b). The primary tumor DNA failed NGS technique, but Sanger sequencing detected the TSC2 mutation (c). Representative genome images from the Integrative Genomics Viewer (Broad Institute) are shown together with Sanger chromatograms