Molecular Diagnostic of Solid Tumor Using a Next Generation Sequencing Custom-Designed Multi-Gene Panel

Area of Science:

• Molecular Oncology
• Genomic Medicine
• Next-Generation Sequencing (NGS) Applications

Background:

• Multi-gene panels are essential for comprehensive molecular profiling of solid tumors.
• Accurate diagnostic, prognostic, and predictive information relies on analyzing multiple genetic targets.
• Routine genotyping of solid lesions increasingly utilizes multi-gene panel approaches.

Purpose of the Study:

• To validate a custom-designed 128-gene next-generation sequencing (NGS) panel for solid tumor genotyping.
• To assess the analytical sensitivity, accuracy, and precision of the multi-gene panel.
• To evaluate the clinical utility of the panel for analyzing common solid tumors.

Main Methods:

• Development of a custom 128-gene panel targeting 22 oncogenes and oncosuppressor genes.
• Analytical validation using two different NGS platforms and single-gene sequencing for accuracy.
• Clinical validation through analysis of 1695 solid tumors and comparison with published mutation frequencies.

Main Results:

• The panel demonstrated 100% concordance with existing methods in accuracy and precision validation.
• Analytical sensitivity was determined to be 5%.
• Mutation frequencies identified in 1695 solid tumors align with existing literature, confirming clinical relevance.

Conclusions:

• The custom 128-gene NGS panel provides a sensitive and high-throughput solution for analyzing critical oncogenes and oncosuppressor genes in solid tumors.
• This validated panel supports diagnostic, prognostic, and predictive molecular characterization across various tumor types.
• The panel is suitable for routine genotyping of central nervous system tumors, lung, colorectal, thyroid, pancreatic, melanoma, oral, and gastrointestinal stromal tumors.