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).