Exome Sequencing Identifies Potentially Druggable Mutations in Nasopharyngeal Carcinoma

摘要: In this study, we first performed whole exome sequencing of DNA from 10 untreated and clinically annotated fresh frozen nasopharyngeal carcinoma (NPC) biopsies matched bloods to identify somatically mutated genes that may be amenable targeted therapeutic strategies. We identified a total 323 mutations which were either non-synonymous (n = 238) or synonymous (n = 85). Furthermore, our analysis revealed in key cancer pathways (DNA repair, cell cycle regulation, apoptosis, immune response, lipid signaling) mutated, those the lipid-signaling pathway most enriched. next extended on prioritized sub-set 37 plus top 5 listed COSMIC using custom designed HaloPlex target enrichment panel with an additional 88 NPC samples. Our 160 37/42 66/88 Of these, 99/160 within potentially druggable further selected for validation. Sanger 77/99 variants true positives, giving accuracy 78%. Taken together, study indicated ~72% (n = 71/98) samples harbored one four (EGFR-PI3K-Akt-mTOR, NOTCH, NF-κB, repair) useful as predictive biomarkers response therapies.