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Updated: Aug 7, 2026
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Transforming routine solid tumor profiling with automated next-generation sequencing: experience from a reference
Annarita Destro1, Federica Panebianco2, Cecília Durães2
1Pathology Unit, IRCCS Humanitas Research Hospital, Rozzano, Milan, Italy. annarita.destro@humanitas.it.
Abstract:
The growing use of targeted therapies highlights the need for integrated DNA- and RNA-based next-generation sequencing (NGS) to comprehensively profile tumors. A single-center study was conducted to screen tumor types for which a first-line, integrated DNA-RNA NGS strategy provides a valuable advantage for rapid therapeutic decisions. A total of 546 tumor samples, including early- and late-stage lung adenocarcinoma (LUAD), intrahepatic and extrahepatic cholangiocarcinoma (iCCA/eCCA), and glioblastoma were analyzed using an automated, in-house NGS platform. Sequencing success rates ranged from 98.7% to 100%, with a median turnaround time of eight days from sample collection or histological diagnosis to report delivery. The assay simultaneously detected point mutations, gene fusions, copy number variants, and other clinically relevant alterations, even from small tissue samples. In LUAD, EGFR exon 19 deletions and KRAS p.G12C were the most frequent actionable mutations in early- and late-stage disease, respectively. A significant association was observed between EGFR amplification and the presence of actionable EGFR mutations in late-stage tumors. Actionable co-mutations of EGFR or KRAS with TP53 occurred at distinct frequencies, suggesting relevant clinical implications for therapy selection. Mutation profiles in cholangiocarcinoma and glioblastoma were consistent with published data, reinforcing the robustness of the approach. The results demonstrate that integrated DNA-RNA high-throughput NGS enables timely, precise molecular profiling for personalized therapy in solid tumors.
Insights
Integrated DNA- and RNA-based next-generation sequencing (NGS) provides rapid, comprehensive tumor profiling for personalized therapy. This approach successfully identified actionable mutations across lung adenocarcinoma, cholangiocarcinoma, and glioblastoma, aiding therapeutic decisions.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genomics
Background:
- Targeted therapies are increasingly used in cancer treatment.
- Comprehensive tumor profiling using DNA and RNA sequencing is crucial for effective treatment selection.
- Next-generation sequencing (NGS) platforms offer a powerful tool for molecular diagnostics.
Purpose of the Study:
- To evaluate an integrated DNA- and RNA-based NGS strategy for rapid, comprehensive tumor profiling.
- To assess the utility of this approach in identifying actionable mutations for therapeutic decisions in various solid tumors.
- To determine the clinical advantage of this integrated NGS strategy in early- and late-stage lung adenocarcinoma, cholangiocarcinoma, and glioblastoma.
Main Methods:
- A single-center study analyzed 546 tumor samples (lung adenocarcinoma, cholangiocarcinoma, glioblastoma) using an automated, in-house DNA-RNA NGS platform.
- The NGS assay simultaneously detected point mutations, gene fusions, and copy number variants.
- Sequencing success rates were high (98.7%-100%), with a median turnaround time of eight days.
Main Results:
- The integrated DNA-RNA NGS assay demonstrated high success rates and rapid turnaround times.
- Actionable mutations, including EGFR exon 19 deletions and KRAS p.G12C, were identified in lung adenocarcinoma.
- Significant associations between EGFR amplification and mutations, as well as distinct co-mutation profiles (e.g., with TP53), were observed, impacting therapy selection.
Conclusions:
- Integrated DNA-RNA high-throughput NGS enables timely and precise molecular profiling of solid tumors.
- This approach is valuable for personalized therapy selection, particularly in lung adenocarcinoma, cholangiocarcinoma, and glioblastoma.
- The findings support the use of integrated NGS for comprehensive tumor characterization and informed therapeutic decisions.
