Plasma is a better source of tumor-derived circulating cell-free DNA than serum for the detection of EGFR alterations in lung tumor patients

Vallée, Audrey; Marcq, M.; Bizieux, A.; Kouri, Claude El; Lacroix, H; Bennouna, Jaafar; Douillard, Jean-Yves; Denis, Marc G.

doi:10.1016/j.lungcan.2013.08.014

Cited by 70 publications

(49 citation statements)

References 9 publications

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“…Nonetheless, the detection rate obtained in these suboptimal conditions shows the potential of this approach in samples obtained in more controlled clinical settings. Indeed, plasma sample quality could be easily addressed in future cohorts by processing (centrifuging and freezing) samples within 3 hours after blood collection, which is achievable in routine clinical settings (40).…”

Section: Discussionmentioning

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

155

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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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Section: Discussionmentioning

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

155

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“…Sensitive techniques such as allele-specific amplification, digital PCR, and next-generation sequencing are used in most studies, but preanalytical procedures are also important. It is now clear that plasma should be preferred (3 ). Blood samples should be processed in the hours immediately after collection to prevent release of genomic DNA from white blood cells, which interferes with the detection of somatic mutations in tumor DNA (4 ) and limits the use of ctDNA.…”

Section: To the Editormentioning

confidence: 99%

Efficient Detection of BRAF Mutation in Plasma of Patients after Long-term Storage of Blood in Cell-Free DNA Blood Collection Tubes

Denis¹,

Knol

Théoleyre³

et al. 2015

Clinical Chemistry

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“…Studies reported that time delay and the storage temperature of blood before centrifugation had a significant impact on DNA concentration in serum and thus serum DNA can be of diagnostic value only if serum preparation is done at ambient temperature and minimizing the time period between blood collection and centrifugation. However, plasma was shown to be a better source of tumor derived circulating cell-free DNA than serum for the detection of mutations and it reflects probably the same concentration of circulating DNA as in circulation while serum DNA can get elevated not because of tumor DNA but because of clotting process [80,[82][83][84].…”

Section: Circulating Dna: Challenges Facedmentioning

confidence: 99%

Circulating DNA in Cancer: An Overview

Singh¹,

Saraya²

2015

Chemotherapy (Los Angel)

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In the last decade, research has been focused on discovering markers which have high sensitivity and specificity to detect cancer. Molecular biologists have been trying to find markers which can be detected non-invasively. Circulating nucleic acids in plasma and serum of cancer patients and the mutations detected in them have gained immense importance in this field. Circulating nucleic acids (CNAs) include DNA, RNA, nucleosomal DNA, microRNA, viral DNA. This review focuses on circulating DNA, its origin and mechanism of release, its diagnostic and prognostic utility, association with any of the clinic pathological parameters and its role in monitoring treatment efficiency in cancer. However, due to lack of uniformity in laboratory techniques, variability in disease advancement, less number of samples in various studies, lack of evidences for the origin of circulating nucleic acids, the knowledge sequestered till now in this field has not been translated in to clinical practice. With more high throughput techniques, circulating nucleic acid levels and mutations in them may give rise to a new era of cancer diagnostics and therapy.

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Plasma is a better source of tumor-derived circulating cell-free DNA than serum for the detection of EGFR alterations in lung tumor patients

Cited by 70 publications

References 9 publications

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

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

Efficient Detection of BRAF Mutation in Plasma of Patients after Long-term Storage of Blood in Cell-Free DNA Blood Collection Tubes

Circulating DNA in Cancer: An Overview

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