Biomarker testing in lung cancer: from bench to bedside.

Area of Science:

• Oncology
• Genomics
• Personalized Medicine

Background:

• Non-small-cell lung cancer (NSCLC) treatment has evolved with biomarker discovery, shifting from therapeutic nihilism to enthusiasm.
• Routine biomarker testing includes EGFR, ALK, and ROS1, with current guidelines recommending at least seven upfront tests.
• Sequential single-gene testing is inefficient, time-consuming, and leads to tissue exhaustion.

Purpose of the Study:

• To review existing guidelines and proposed recommendations for next-generation sequencing (NGS) in non-squamous NSCLC.
• To evaluate real-world data on the utility of NGS in NSCLC diagnostics.
• To highlight the advantages of broader panel-based NGS testing over traditional single-gene testing.

Main Methods:

• Review of current NSCLC diagnostic guidelines and literature.
• Analysis of real-world data on the application of NGS in NSCLC.
• Comparison of multigene panel testing with sequential single-gene testing.

Main Results:

• NGS enables comprehensive identification of various genetic alterations, including point mutations, insertions, deletions, copy number alterations, fusion genes, and microsatellite instability.
• Multigene panel testing provides a more efficient and tissue-sparing alternative to sequential single-gene testing.
• NGS facilitates the selection of targeted therapies based on a wider range of identified biomarkers.

Conclusions:

• Multigene panel testing using NGS is an attractive diagnostic approach for NSCLC, aligning with precision medicine principles.
• NGS testing offers a more efficient and comprehensive diagnostic strategy compared to sequential single-gene testing.
• Adopting broader panel-based NGS testing is advantageous for guiding targeted therapy in NSCLC management.