Automated integrated DNA-RNA NGS achieves 98.7% success and eight-day turnaround in routine solid tumor profiling
The study reports the operational validation of an automated, in-house integrated DNA-RNA next-generation sequencing platform across 546 solid tumor samples, including lung adenocarcinoma, cholangiocarcinoma, and glioblastoma. Investigators achieved sequencing success rates between 98.7% and 100% with a median turnaround time of eight days, while simultaneously detecting point mutations, fusions, and copy number variants from limited tissue. Key molecular findings included stage-specific prevalence of EGFR exon 19 deletions and KRAS p.G12C in lung adenocarcinoma, alongside distinct co-mutation patterns with TP53 that may inform therapy selection. For molecular pathology laboratories, the results demonstrate that automated integrated NGS can deliver comprehensive, rapid genomic profiling to support timely, personalized treatment decisions in routine clinical practice.
The original study
Transforming routine solid tumor profiling with automated next-generation sequencing: experience from a reference general hospital.
- Authors
- Destro A, Panebianco F, Durães C, Quagliata L, Rudini N, Bianchi G, et al.
- Journal
- Virchows Archiv : an international journal of pathology
- Type
- Journal Article
- PMID
- 42554859
Original 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.