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Updated: Apr 19, 2026

Author Spotlight: Advancements in Molecular Biomarker Testing for Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
Next generation sequencing in non-small cell lung cancer: new avenues toward the personalized medicine
Simona Coco, Anna Truini, Irene Vanni
1Lung Cancer Unit, IRCCS AOU San Martino - IST, L.go R. Benzi, 10, 16132, Genova, Italy. simona.coco@hsanmartino.it.
Abstract:
Non-small cell lung cancer (NSCLC) is one of the most common causes of cancer-related death worldwide. Based on the patient's stage of disease, treatment options include surgery, radiotherapy, and chemotherapy. Although chemotherapy remains the main therapeutic approach for advanced NSCLC, targeted therapy represents a good chance of treatment for this subgroup of patients. Currently this approach is based on previous evaluation of clinically relevant mutations and the Sanger sequencing is the main approach to assign mutational status and to guide the appropriate treatment; however this tool is characterized by a low sensitivity. Recently, the advent of next-generation sequencing (NGS) has dramatically revolutionized the molecular knowledge of cancer by increasing the feasibility and possibility to sequence DNA ranging from large scale studies to targeted regions. This review reports an overview of different applications of the NGS as novel approach to study NSCLC, thereby providing information about mutational spectrum of this cancer in order to identify novel targetable mutations and to predict the emergence of drug resistance. All studies demonstrated several advantages of this approach over the traditional tools. In particular the NGS was also able to reveal mutations in low percentage, and to screen the mutational status of different critical samples such as biopsies, cytological samples and circulating plasma DNA, offering innovative diagnostic opportunities. Despite several problems have to be overcome toward the personalized therapy, the NGS represents a highly attractive system to identify mutations improving the outcome of patients with this deadly disease.
Insights
Next-generation sequencing (NGS) offers a sensitive method for identifying mutations in non-small cell lung cancer (NSCLC). This advanced technique improves molecular profiling and aids in personalized treatment strategies for this deadly disease.
Area of Science:
- Oncology
- Genomics
- Molecular Biology
Background:
- Non-small cell lung cancer (NSCLC) is a leading cause of cancer mortality globally.
- Current treatments for advanced NSCLC primarily rely on chemotherapy, with targeted therapy offering promise for specific patient subgroups.
- Sanger sequencing, while used for mutation detection, has limitations in sensitivity for guiding targeted treatments.
Purpose of the Study:
- To review the applications of next-generation sequencing (NGS) in studying NSCLC.
- To highlight NGS's role in identifying novel targetable mutations and predicting drug resistance.
- To compare the advantages of NGS over traditional sequencing methods for NSCLC molecular profiling.
Main Methods:
- Review of studies utilizing next-generation sequencing (NGS) for NSCLC molecular analysis.
- Analysis of NGS capabilities in detecting low-percentage mutations.
- Evaluation of NGS for screening various sample types, including biopsies, cytological samples, and circulating plasma DNA.
Main Results:
- NGS provides a comprehensive overview of the NSCLC mutational spectrum.
- NGS demonstrates significantly higher sensitivity than traditional methods, detecting mutations present at low percentages.
- NGS facilitates the analysis of diverse sample types, including liquid biopsies, offering new diagnostic avenues.
Conclusions:
- Next-generation sequencing (NGS) revolutionizes the molecular understanding and diagnosis of NSCLC.
- NGS enables the identification of actionable mutations and resistance markers, paving the way for personalized medicine.
- Despite challenges, NGS is a powerful tool for improving patient outcomes in NSCLC.

