DNA Mutation Panel Testing
DNA sequencing for mutation and copy-number profiling was successfully completed for 31 cases (Figure 1), revealing 10 cancer gene mutations in 9 tumor samples (29%; Figure 2). The most common mutation identified was BRAF p.V600E, found in six tumors (19%) including one tumor with a co-occurring AKT1 p.E17K mutation, a known hotspot driver mutation in the PI3K pathway that has been identified in multiple cancer types, including in PTC27-29. Other alterations identified included a PTPN11 hotspot mutation (p.S502T), a frameshift mutation in PIK3R1 (p.Y29fs), and a nonsense mutation in TP53 (p.Y163X). The genome-wide copy number profiles for these tumor samples did not reveal high level amplifications or homozygous losses (Supplemental Figure S1).