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Updated: May 29, 2026

Ultra-Fast Amplicon-Based Next-Generation Sequencing in Non-Squamous Non-Small Cell Lung Cancer
Published on: September 8, 2023
[Targeted therapy in lung cancer: molecular testing using cytological specimens]
M Pusztaszeri1, J-C Pache, N Mach
1Service de pathologie clinique, Département de médecine génétique et de laboratoire, HUG, Genève. Marc.Pusztaszeri@hcuge.ch
Abstract:
Important advances in lung cancer treatment have been made over the last decade. Several drugs designed to target molecular pathways involved in cancer-cell growth and survival have been shown to be effective in a selected fraction (<20%) of non-small cell lung cancer patients. Somatic mutations in several genes (i.e.: EGFR and KRAS) can predict patient's response to targeted therapies. Those mutations are commonly detected on histopathological samples (core-needle biopsy/ surgical resection). However, when tissue biopsies are not available, molecular testing has to be performed on cytological specimens. Issues raised by molecular testing on cytological specimen are discussed in this article.
Insights
Molecular testing for lung cancer mutations is crucial for targeted therapies. This article discusses challenges and solutions for performing this essential testing on cytological specimens when biopsies are unavailable.
Area of Science:
- Oncology
- Molecular Biology
- Pulmonology
Background:
- Lung cancer treatment has advanced significantly, with targeted therapies showing efficacy in specific patient subsets.
- Targeted therapies are effective in a small fraction (<20%) of non-small cell lung cancer (NSCLC) patients.
- Somatic mutations in genes like EGFR and KRAS predict response to these targeted treatments.
Purpose of the Study:
- To discuss the challenges associated with molecular testing on cytological specimens for non-small cell lung cancer.
- To highlight the importance of molecular testing for guiding targeted therapy selection.
- To explore solutions for performing molecular diagnostics on non-histopathological samples.
Main Methods:
- Review of current literature on molecular testing in lung cancer.
- Analysis of the suitability of cytological specimens for molecular diagnostics.
- Discussion of technical issues and potential workarounds for molecular testing on cytology.
Main Results:
- Histopathological samples (biopsies, resections) are the standard for molecular testing.
- Cytological specimens present unique challenges for molecular testing.
- Accurate molecular profiling is essential for personalized lung cancer treatment.
Conclusions:
- Molecular testing on cytological specimens is a viable alternative when biopsies are unavailable.
- Addressing the technical challenges of cytological molecular testing is critical for expanding access to targeted therapies.
- Optimizing molecular diagnostics on cytology samples can improve treatment outcomes for non-small cell lung cancer patients.
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