ArticlePloS one2013
Next-generation sequencing of lung cancer EGFR exons 18-21 allows effective molecular diagnosis of small routine samples (cytology and biopsy).
Article in PloS one, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers, 1 of them a synthesis that pooled it.
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Who cites it
31 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Diagnostic accuracy of next-generation sequencing (NGS) for identifying actionable mutations in advanced non-small cell lung cancer: Systematic Review and Meta-Analysis.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2026Pooled it
- Artificial base mismatches-mediated PCR (ABM-PCR) for detecting clinically relevant single-base mutations.Clinical chemistry and laboratory medicine · 2025Article
- Interstitial lung diseases with concomitant lung cancer: a data mining approach revealing a complex condition with gender- and immune-associated specific implications.Frontiers in oncology · 2024Article
- Enhanced ultrasound-guided versus non-enhanced ultrasound-guided percutaneous needle biopsy in tissue cellularity of lung malignancies: a propensity score matched study.Quantitative imaging in medicine and surgery · 2022Article
- Expert opinion on NSCLC small specimen biomarker testing - Part 1: Tissue collection and management.Virchows Archiv : an international journal of pathology · 2022Review
- Impact of Endoscopic Ultrasound-Guided Tissue Acquisition on Decision-Making in Precision Medicine for Pancreatic Cancer: Beyond Diagnosis.Diagnostics (Basel, Switzerland) · 2021Review
- [Analysis of the Relationship Between the Quality of Small Biopsy Specimens of Non-small Cell Lung Cancer and the Mutation Rate of EGFR Gene].Zhongguo fei ai za zhi = Chinese journal of lung cancer · 2021Article
- IDH1 Non-Canonical Mutations and Survival in Patients with Glioma.Diagnostics (Basel, Switzerland) · 2021Article
- Article
- Analysis of Single Nucleotide-Mutated Single-Cancer Cells Using the Combined Technologies of Single-Cell Microarray Chips and Peptide Nucleic Acid-DNA Probes.Micromachines · 2020Article
- Molecular Diagnostic of Solid Tumor Using a Next Generation Sequencing Custom-Designed Multi-Gene Panel.Diagnostics (Basel, Switzerland) · 2020Article
- Tissue and Plasma EGFR Mutation Analysis in the FLAURA Trial: Osimertinib versus Comparator EGFR Tyrosine Kinase Inhibitor as First-Line Treatment in Patients with EGFR-Mutated Advanced Non-Small Cell Lung Cancer.Clinical cancer research : an official journal of the American Association for Cancer Research · 2019Article
- Characterization of epidermal growth factor receptor (EGFR) P848L, an unusual EGFR variant present in lung cancer patients, in a murine Ba/F3 model.FEBS open bio · 2019Article
- A new primer construction technique that effectively increases amplification of rare mutant templates in samples.BMC biotechnology · 2019Article
- New Era of Endoscopic Ultrasound-Guided Tissue Acquisition: Next-Generation Sequencing by Endoscopic Ultrasound-Guided Sampling for Pancreatic Cancer.Journal of clinical medicine · 2019Review
- Rapid on-site evaluation using telecytology: A major cancer center experience.Diagnostic cytopathology · 2019Article
- Long-term clinical benefit from salvage EGFR tyrosine kinase inhibitors in advanced non-small-cell lung cancer patients with EGFR wild-type tumors.Clinical & translational oncology : official publication of the Federation of Spanish Oncology Societies and of the National Cancer Institute of Mexico · 2018Observational
- Molecular profiling of lung cancer specimens and liquid biopsies using MALDI-TOF mass spectrometry.Diagnostic pathology · 2018Article
- Targeted next-generation sequencing in cytology specimens for molecular profiling of lung adenocarcinoma.International journal of clinical and experimental pathology · 2018Article
- Molecular characteristics and clinical outcomes ofOncotarget · 2017Article
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10 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Selection of lung cancer patients for therapy with tyrosine kinase inhibitors directed at EGFR requires the identification of specific EGFR mutations. In most patients with advanced, inoperable lung carcinoma limited tumor samples often represent the only material available for both histologic typing and molecular analysis. We defined a next generation sequencing protocol targeted to EGFR exons 18-21 suitable for the routine diagnosis of such clinical samples. The protocol was validated in an unselected series of 80 small biopsies (n=14) and cytology (n=66) specimens representative of the material ordinarily submitted for diagnostic evaluation to three referral medical centers in Italy. Specimens were systematically evaluated for tumor cell number and proportion relative to non-neoplastic cells. They were analyzed in batches of 100-150 amplicons per run, reaching an analytical sensitivity of 1% and obtaining an adequate number of reads, to cover all exons on all samples analyzed. Next generation sequencing was compared with Sanger sequencing. The latter identified 15 EGFR mutations in 14/80 cases (17.5%) but did not detected mutations when the proportion of neoplastic cells was below 40%. Next generation sequencing identified 31 EGFR mutations in 24/80 cases (30.0%). Mutations were detected with a proportion of neoplastic cells as low as 5%. All mutations identified by the Sanger method were confirmed. In 6 cases next generation sequencing identified exon 19 deletions or the L858R mutation not seen after Sanger sequencing, allowing the patient to be treated with tyrosine kinase inhibitors. In one additional case the R831H mutation associated with treatment resistance was identified in an EGFR wild type tumor after Sanger sequencing. Next generation sequencing is robust, cost-effective and greatly improves the detection of EGFR mutations. Its use should be promoted for the clinical diagnosis of mutations in specimens with unfavorable tumor cell content.
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