Related Experiment Video
Updated: Jul 5, 2025
Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
Actionable mutational profiling in solid tumors using hybrid-capture-based next-generation sequencing in a real-world
Sandra Zazo1,2, Sandra Pérez-Buira1, Nerea Carvajal1
1Department of Pathology, Fundación Jiménez Díaz University Hospital, Madrid, Spain.
Objective:
This study aimed to describe the performance of a next-generation sequencing (NGS) panel for the detection of precise genomic alterations in cancer in Spanish clinical practice. The impact of tumor characteristics was evaluated on informative NGS and actionable mutation rates.
Materials And Methods:
A cross-sectional study was conducted at the Fundación Jiménez Díaz University Hospital (May 2021-March 2022) where molecular diagnostic of 537 Formalin-Fixed Paraffin-Embedded (FFPE) tissue samples of diverse solid tumors (lung, colorectal, melanoma, gastrointestinal stromal, among others) was performed using AVENIO Tumor Tissue Targeted Kit. A descriptive analysis of the features of all samples was carried out. Multivariable logistic analysis was conducted to assess the impact of sample characteristics on NGS performance defined by informative results rate (for all tumors and for lung tumors), and on actionable mutations rate (for lung tumors only).
Results:
AVENIO performance rate was 75.2% in all tumor samples and 75.3% in lung cancer samples, and the multivariable analysis showed that surgical specimens are most likely to provide informative results than diagnostic biopsies. Regarding the mutational findings, 727 pathogenic, likely pathogenic, or variant of unknown significance mutations were found in all tumor samples. Single nucleotide variant was the most common genomic alteration, both for all tumor samples (85.3% and 81.9% for all solid tumors and lung samples, respectively). In lung tumors, multivariable analysis showed that it is more likely to find actionable mutations from non-smokers and patients with adenocarcinoma, large cell, or undifferentiated histologies.
Conclusion:
This is the largest cohort-level study in Spain to profile the analyses of biopsy samples of different tumors using NGS in routine clinical practice. Our findings showed that the use of NGS routinely provides good rates of informative results and can improve tumor characterization and identify a greater number of actionable mutations.
Insights
Next-generation sequencing (NGS) reliably detects genomic alterations in diverse Spanish cancer patients. This approach improves tumor characterization and identifies more actionable mutations, especially in lung cancer.
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.
More Related Videos
13:24Integration of Wet and Dry Bench Processes Optimizes Targeted Next-generation Sequencing of Low-quality and Low-quantity Tumor Biopsies
Published on: April 11, 2016
11:02Detecting Somatic Genetic Alterations in Tumor Specimens by Exon Capture and Massively Parallel Sequencing
Published on: October 18, 2013