Quantification of Free Circulating DNA As a Diagnostic Marker in Lung Cancer

Sozzi, Gabriella; Conte, Davide; Leon, MariaElena; Cirincione, Rosalia; Roz, Luca; Ratcliffe, Cathy; Roz, Elena; Cirenei, Nicola; Bellomi, Massimo; Pelosi, Giuseppe; Pierotti, Marco A.; Pastorino, Ugo

doi:10.1200/jco.2003.02.006

Cited by 500 publications

(409 citation statements)

References 23 publications

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“…Some authors use small volumes of elution buffer (50µl) to obtain a concentrated DNA solution for subsequent PCR analysis [24,26]. However, we found that using low volumes of elution buffer led to a significantly lower DNA yield.…”

Section: Discussionmentioning

confidence: 73%

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Optimizing the yield and utility of circulating cell-free DNA from plasma and serum

Xue

Teare

Holen

et al. 2009

Clinica Chimica Acta

138

114

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Section: Discussionmentioning

confidence: 73%

“…Some groups have routinely used as little as 50 μl of elution buffer [24]. We studied the effects of different volumes, composition and temperature of elution buffer on CFDNA recovery (figure 2).…”

Section: Optimization Of Qiaamp Protocolmentioning

confidence: 99%

Optimizing the yield and utility of circulating cell-free DNA from plasma and serum

Xue

Teare

Holen

et al. 2009

Clinica Chimica Acta

138

114

View full text Add to dashboard Cite

show abstract

“…The first report that DNA could be detected in the blood of cancer patients occurred in 1948 (12), although efforts to explore this observation for diagnostic purposes did not occur until the last decade. Measurements of absolute levels of CNAs have been suggested for the diagnosis (13) and prognosis (14) of breast and lung cancer (15). The general diagnostic value of simple quantitative measures of CNA, however, is controversial because nonspecific CNA elevations are seen in patients with benign diseases (16)(17)(18)(19).…”

Section: Introductionmentioning

confidence: 99%

Next Generation Sequencing of Serum Circulating Nucleic Acids from Patients with Invasive Ductal Breast Cancer Reveals Differences to Healthy and Nonmalignant Controls

Beck

Urnovitz

Mitchell

et al. 2010

Molecular Cancer Research

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Circulating nucleic acids (CNA) isolated from serum or plasma are increasingly recognized as biomarkers for cancers. Recently developed next generation sequencing provides high numbers of DNA sequences to detect the trace amounts of unique serum biomarkers associated with breast carcinoma. Serum CNA of 38 women with ductal carcinoma was extracted and sequenced on a 454/Roche high-throughput GS-FLX platform and compared with healthy controls and patients with other medical conditions. Repetitive elements present in CNA were detected and classified, and each repetitive element was normalized based on total sequence count or repeat count. Multivariate regression models were calculated using an information-theoretical approach and multimodel inference. A total of 423,150 and 953,545 sequences for the cancer patients and controls, respectively, were obtained. Data from 26 patients with stages II to IV tumors and from 67 apparently healthy female controls were used as the training data set. Using a bootstrap method to avoid sampling bias, a five-parameter model was developed. When this model was applied to a validation data set consisting of patients with tumor stage I (n = 10) compared with healthy and nonmalignant disease controls (n = 87; 1,261,561 sequences) a sensitivity of 70% at a specificity of 100% was obtained. At a diagnostic specificity level of 95%, a sensitivity of 90% was calculated. Identification of specific breast cancer-related CNA sequences provides the basis for the development of a serum-based routine laboratory test for breast cancer screening and monitoring.

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“…It has recently been demonstrated that free-tumor derived DNA levels in plasma or serum are significantly higher in lung cancer patients compared to healthy donors. 102,103 This could be explained by the presence of necrotic cells sloughed from primary tumor or circulating tumor cells, which possess the same genetic lesions.…”

Section: Biological Samples Suitable For Molecular Characterizationmentioning

confidence: 99%

Predictive molecular markers for EGFR-TKI in non-small cell lung cancer patients: new insights and critical aspects

Ulivi

Calistri

Zoli

et al. 2010

J Nucleic Acids Invest

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In recent years, a number of novel agents have been investigated that target specific molecular pathways in non-small cell lung cancer (NSCLC). A great deal of effort has been focused on identifying specific markers that predict treatment response, given that a tailored approach would maximize both the therapeutic index and the cost-effectiveness. The epidermal growth factor receptor (EGFR) pathway has emerged as a key regulator of cancer cell proliferation and invasion, and several specific EGFR inhibitors have been examined. Gefitinib and erlotinib are selective EGFR tyrosine kinase inhibitors (EGFR-TKIs), demonstrating good results in selected cases both in terms of objective response rate and of overall survival. At present, EGFR gene mutations are the best positive predictive factors for TKI therapy, and a number of other potential biomarkers are being investigated as additional positive or negative predictors of response. The correct selection of patients that could benefit from these innovative therapies, based on an accurate molecular characterization, is mandatory to provide the best clinical management. Currently, the main factor limiting the characterization of metastatic NSCLC patients is the small quantity of tumor cells available for molecular analysis. In this paper we provide an overview of the most important molecular predictive markers for EGFR-TKIs therapy in NSCLC patients, and focus attention on biological samples suitable for analysis and alternative sampling approaches such as plasma-or serum-derived DNA.

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Quantification of Free Circulating DNA As a Diagnostic Marker in Lung Cancer

Cited by 500 publications

References 23 publications

Optimizing the yield and utility of circulating cell-free DNA from plasma and serum

Optimizing the yield and utility of circulating cell-free DNA from plasma and serum

Next Generation Sequencing of Serum Circulating Nucleic Acids from Patients with Invasive Ductal Breast Cancer Reveals Differences to Healthy and Nonmalignant Controls

Predictive molecular markers for EGFR-TKI in non-small cell lung cancer patients: new insights and critical aspects

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