Non-Small Cell Lung Cancer Testing on Reference Specimens: An Italian Multicenter Experience

Area of Science:

• Oncology
• Molecular Diagnostics
• Cancer Research

Background:

• Biomarker testing is essential for managing advanced non-small cell lung cancer (NSCLC).
• Various technical platforms exist for biomarker analysis, differing in multiplexing, sensitivity, and turnaround time.
• Evaluating diagnostic workflow performance is critical for accurate patient care.

Purpose of the Study:

• To assess the technical performance of diagnostic workflows in Italian institutions for NSCLC biomarker analysis.
• To utilize artificial reference specimens to mimic routine diagnostic samples for evaluation.
• To identify areas for optimization in molecular testing procedures.

Main Methods:

• Distributed artificial reference specimens with specific mutations (EGFR, KRAS, ROS1, MET) to 24 Italian institutions.
• Collected methodological and molecular data from participating centers.
• Validated reference specimens independently before distribution.

Main Results:

• Median DNA concentrations varied between automated (3.3 ng/µL) and manual (13.4 ng/µL) procedures.
• Median RNA concentrations were 5.7 ng/µL (automated) and 9.3 ng/µL (manual).
• High detection rates for KRAS, EGFR, and ROS1 alterations; MET exon 14 skipping detected in 93.7% of centers.

Conclusions:

• Optimized technical workflows are vital for NSCLC patient decision-making.
• Artificial reference specimens are effective tools for optimizing diagnostic workflows.
• This approach enhances predictive molecular analysis in routine clinical practice.