Comparison of Epidermal Growth Factor Receptor Mutation Statuses in Tissue and Plasma in Stage I–IV Non-Small Cell Lung Cancer Patients

Zhao, Xiaomeng; Han, Rong Xun; Zhao, Jing; Wang, Jun; Yang, Fan; Zhong, Wei; Zhang, Li; Li, Longyun; Wang, Mengzhao

doi:10.1159/000338790

Cited by 95 publications

(77 citation statements)

References 50 publications

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“…Many methods can be used to detect gene mutations in ctDNA in NSCLC, including qPCR [25,26], mutant-enriched PCR (ME-PCR) [27][28][29], qPCR and direct sequencing [30], PCRrestriction fragment length polymorphism (RFLP) [31], PCRsingle-strand conformational polymorphism (SSCP), PCRamplification refractory mutation system (ARMS) [32], peptide nucleic acid-locked nucleic acid PCR clamp (PNA-LNA PCR clamp) [33], denaturing high-performance liquid chromatography (DHPLC) [34], digital PCR [35], and nextgeneration sequencing (NGS) [36]. Some of them can be used to identify known mutations (i.e., most PCR-based techniques), and others can be employed to screen unknown mutations (i.e., next-generation sequencing).…”

Section: Gene Mutationmentioning

confidence: 99%

Cell-free circulating tumor DNA in plasma/serum of non-small cell lung cancer

2014

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Non-small cell lung cancer (NSCLC) is the common type of lung cancer, which is the leading cause of cancer death throughout the world. Most patients were diagnosed too late for curative treatment. So, it is necessary to develop a minimal invasive method to identify NSCLC at an early stage. In recent years, cell-free circulating tumor DNA (ctDNA) has attracted increasing attention as a potential tumor marker for its minimal invasive, convenient, and easily accepted properties. The amount of ctDNA in plasma or serum was significantly higher in NSCLC patients than that in healthy controls or patients with benign diseases. Furthermore, many studies have proved an association among tumor stage, tumor grade, lymph node involvement, the number of metastatic sites, tumor response, survival outcome, and the ctDNA levels. Many genetic changes, such as gene mutation, loss of heterozygosity, microsatellite instability, and gene methylation were also found in ctDNA in NSCLC patients. These findings demonstrated that the ctDNA could serve as a viable tool to monitor NSCLC and prompted us to find more sensitive and specific biomarkers for clinical practice, especially monitor these cases with at least one known gene abnormality. Here, we reviewed the evidence of ctDNA in NSCLC and consider possible future applications in patient management.

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Section: Gene Mutationmentioning

confidence: 99%

Cell-free circulating tumor DNA in plasma/serum of non-small cell lung cancer

2014

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“…CfDNA recently attracted growing interest in oncology for multipurpose use (11). It has been considered as a prognostic and predictive biomarker (12,13), and as a "liquid biopsy" to perform noninvasive testing for biomarker detection (14)(15)(16)(17)(18)(19)(20). However, the main challenge remains technical because, in many cases, tumor DNA (tDNA) may only represent a very small fraction of cfDNA (21,22).…”

Section: Introductionmentioning

confidence: 99%

Noninvasive Diagnosis of Actionable Mutations by Deep Sequencing of Circulating Free DNA in Lung Cancer from Never-Smokers: A Proof-of-Concept Study from BioCAST/IFCT-1002

Couraud

Vaca-Paniagua

Villar

et al. 2014

Clinical Cancer Research

194

153

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Purpose: Tumor somatic mutation analysis is part of the standard management of metastatic lung cancer. However, physicians often have to deal with small biopsies and consequently with challenging mutation testing. Circulating free DNA (cfDNA) is a promising tool for accessing the tumor genome as a liquid biopsy. Here, we evaluated next-generation sequencing (NGS) on cfDNA samples obtained from a consecutive series of patients for the screening of a range of clinically relevant mutations.Experimental Design: A total of 107 plasma samples were collected from the BioCAST/IFCT-1002 lung cancer study (never-smokers cohort). Matched tumor DNA (tDNA) was obtained for 68 cases. Multiplex PCR-based assays were designed to target specific coding regions in EGFR, KRAS, BRAF, ERBB2, and PI3KCA genes, and amplicon sequencing was performed at deep coverage on the cfDNA/tDNA pairs using the NGS IonTorrent Personal Genome Machine Platform.Results: CfDNA concentration in plasma was significantly associated with both stage and number of metastatic sites. In tDNA, 50 mutations (36 EGFR, 5 ERBB2, 4 KRAS, 3 BRAF, and 2 PIK3CA) were identified, of which 26 were detected in cfDNA. Sensitivity of the test was 58% (95% confidence interval, 43%-71%) and the estimated specificity was 87% (62%-96%).Conclusion: These data demonstrate the feasibility and potential utility of mutation screening in cfDNA using IonTorrent NGS for the detection of a range of tumor biomarkers in patients with metastatic lung cancer. Clin Cancer Res; 20(17); 4613-24. Ó2014 AACR.

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“…Our patient developed secondary crizotinib resistance with slow progression of his tumor after 9 months of crizotinib. Previous publications regarding the retreatment of patients with secondary resistance to EGFR-TKIs suggest that a drug holiday and treatment with a conventional chemotherapeutic may reestablish sensitivity to TKIs [9,10]. Although this strategy is well described for EGFR-TKIs, there is to date only one case report indicating that crizotinib retreatment of ALK-positive patients after a drug holiday and chemotherapy improves crizotinib sensitivity [11].…”

Section: Discussionmentioning

confidence: 99%

Response to Chemotherapy, Reexposure to Crizotinib and Treatment with a Novel ALK Inhibitor in a Patient with Acquired Crizotinib Resistance

Schrödl

Schilling²,

Tufman³

et al. 2014

Respiration

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The treatment of advanced non-small cell lung cancer (NSCLC) has dramatically changed over the last decade. It has developed from an unspecific approach based on platinum doublet chemotherapy to a personalized, molecularly targeted therapy. Crizotinib is a new tyrosine kinase inhibitor approved for the treatment of NSCLC with gene rearrangement of EML4 and ALK. Despite good initial responses, patients treated with crizotinib relapse after an average of 10 months. In this case report, we present a patient with acquired crizotinib resistance whose adenocarcinoma responded to a second course of crizotinib following a drug holiday and chemotherapy with pemetrexed. This is the second case report to suggest that retreatment with crizotinib is an option for patients with initial benefit from ALK inhibition.

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Comparison of Epidermal Growth Factor Receptor Mutation Statuses in Tissue and Plasma in Stage I–IV Non-Small Cell Lung Cancer Patients

Cited by 95 publications

References 50 publications

Cell-free circulating tumor DNA in plasma/serum of non-small cell lung cancer

Cell-free circulating tumor DNA in plasma/serum of non-small cell lung cancer

Noninvasive Diagnosis of Actionable Mutations by Deep Sequencing of Circulating Free DNA in Lung Cancer from Never-Smokers: A Proof-of-Concept Study from BioCAST/IFCT-1002

Response to Chemotherapy, Reexposure to Crizotinib and Treatment with a Novel ALK Inhibitor in a Patient with Acquired Crizotinib Resistance

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