Actionable mutational profiling in solid tumors using hybrid-capture-based next-generation sequencing in a real-world...

Area of Science:

• Oncology
• Genomics
• Molecular Diagnostics

Background:

• Next-generation sequencing (NGS) is crucial for identifying precise genomic alterations in cancer.
• Implementing NGS in routine clinical practice requires evaluation of its performance and impact.

Purpose of the Study:

• To assess the performance of an NGS panel for detecting genomic alterations in Spanish clinical practice.
• To evaluate the influence of tumor characteristics on NGS informative and actionable mutation rates.

Main Methods:

• A cross-sectional study analyzed 537 Formalin-Fixed Paraffin-Embedded (FFPE) solid tumor samples using the AVENIO Tumor Tissue Targeted Kit.
• Descriptive analysis and multivariable logistic regression were used to assess NGS performance and mutation rates based on sample characteristics.

Main Results:

• The NGS panel achieved a 75.2% informative rate across all tumors and 75.3% in lung cancer.
• Surgical specimens yielded more informative results than diagnostic biopsies.
• Single nucleotide variants were the most common alteration; actionable mutations were more frequent in non-smokers and specific lung cancer histologies.

Conclusions:

• NGS routinely provides good informative rates and enhances tumor characterization in Spanish clinical practice.
• This study represents the largest cohort in Spain to analyze tumor biopsies using NGS in routine settings.
• NGS facilitates the identification of a greater number of actionable mutations for cancer treatment.