Next-generation sequencing using a targeted gene panel in advanced solid tumors: five years of experience from an Italian referral institution

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AIMS: Next generation sequencing (NGS) represents the "holy grail" for the diagnostic algorithm for advanced solid tumors. In our experience, we commonly use our customized DNA-based NGS panel (namely, SiRe®). The aim of this study was to assess the efficiency of our customized DNA-based NGS panel in detecting molecular alterations in both tissue and liquid biopsy samples. METHODS: We retrospectively retrieved molecular data from our electronic archives of advanced stage solid tumor cases tested by our DNA-based NGS approach from January 2018 to December 2022. Almost all samples (2045/2173, 94.1%), including liquid biopsies, were analyzed with our DNA-based NGS approach. We also retrieved all relevant molecular data on other tested biomarkers. RESULTS: A total of n = 2173 advanced stage solid tumor patients were tested. Overall, at least one DNA-based alteration was detected in 52.7%, 66.6%, 87.6%, 68.8%, 46.7% of NSCLC ADC, CRC, GIST, melanoma, and breast cancer cases. CONCLUSIONS: The present study has provided a real-world practice experience on the efficiency of applying DNA-based NGS analysis to both tissue and liquid biopsy samples in detecting actionable mutations in advanced stage solid tumor patients.

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