Validation of the Ion Torrent PGM sequencing for the prospective routine molecular diagnostic of colorectal cancer.

摘要: Abstract Objectives Treatment individualization based on specific molecular biomarkers is becoming increasingly important in oncology. In colorectal cancer (CRC), the characterization of RAS and BRAF mutation status for prognostic predictive purposes commonly performed by different validated methods. However, as number clinically relevant mutations to be analyzed increases, definition new approaches more sensitive, rapid economic patient selection urges. To this aim, we evaluated Ion Semiconductor sequencing using Torrent Personal Genome Machine (IT-PGM) our routine diagnostics CRC comparison with gold standard direct Sanger sequencing. Design methods Formalin-fixed paraffin-embedded tumor tissues obtained surgery or biopsy 66 CRCs were collected. DNA was extracted sequenced IT-PGM method. Results The proposed strategy exceeded 500 reads coverage all RAS/BRAF amplicons most samples thus guaranteed optimal determination. Indeed, frequencies mutational spectrum agreement literature data revealed 100% concordance between approaches. Turnaround time cost evaluation indicate that permits spots at lower turnaround compared allows inclusion additional whose may acquire significance very next future. Conclusion a valid, flexible, sensitive economical method alternative select patients anti-epidermal growth factor receptor therapy metastatic CRC.