Clinical Utility of Large Next-Generation Sequencing Panel Across Diverse Tumour Types: A Single-Center Retrospective Analysis.

Abstract

Background: In complex real-world clinical practice, the application of advanced technologies, such as next-generation sequencing (NGS), is crucial for achieving the most reasonable and relatively effective therapy for cancer patients at each stage of treatment.

Aim: This study aimed to retrospectively analyze the clinical utility of a large NGS panel in the management of solid tumors within a clinical practice setting.

Method: A comprehensive NGS panel was used to detect diagnostic, prognostic, and therapeutic biomarkers in solid tumors on a commercially available platform. NGS assay was performed on 431 specimens from 416 patients.

Results: At least 1 actionable variant was in 89.1% of all specimens. The most frequently altered gene was TP53, followed by EGFR, KRAS, PIKC3A, and RB1. In 55.7% of cases, at least 1 therapeutically targetable variant was identified, including 25.3% of cases harboring variants for which a targeted therapy was available for the disease and 26.0% of cases harboring variants for which a targeted therapy was available for other diseases. The median tumor mutational burden (TMB) was 10.3 mutations/Mb. Microsatellite instability (MSI) was available for 352 patients, and only 6 cases were MSI-high. The patients receiving targeted therapy and/or immune checkpoint inhibitors survived significantly longer than those receiving chemotherapy and/or radiotherapy (P = 0.001).

Conclusion: Our results demonstrate the significant clinical utility of comprehensive genomic profiling in the routine clinical testing of patients with solid tumors.