Current status and future potential of somatic mutation testing from circulating free DNA in patients with solid tumours

Aung, Kyaw Lwin; Board, Ruth; Ellison, Gillian; Donald, Emma; Ward, Tim; Clack, Glen; Ranson, Malcolm R; Hughes, Andrew; Newman, William G.

doi:10.1007/s11568-011-9149-2

Cited by 40 publications

(33 citation statements)

References 72 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Another stand of research explores the potential clinical value of measuring the cfDNA and the emergence of recent technologies has enabled investigation of relevant cohorts of cancer patients in clinical settings. Several studies indicate a potential prognostic, predictive and diagnostic value of measuring the cfDNA, which calls for reliable validation [14][15][16][17][18][19][20][21][22][23].…”

Section: Metastatic Colorectal Cancermentioning

confidence: 99%

Methodological, biological and clinical aspects of circulating free DNA in metastatic colorectal cancer

Spindler

2016

Acta Oncologica

View full text Add to dashboard Cite

Background: Circulating DNA can be used to measure the total cell-free DNA (cfDNA) and for detection and quantification of tumor-specific genetic alterations in the peripheral blood, and the broad clinical potential of circulating DNA has attracted increasing focus over the past decade. Concentrations of circulating DNA are high in metastatic colorectal cancer (CRC), and the total levels of cfDNA have been reported to hold strong prognostic value. Colorectal tumors are characterized by a high frequency of well known, clinically relevant genetic alteration, which is readily detected in the cfDNA and holds potential for tailoring of palliative therapy and for monitoring during treatment. This review aims to present the current literature which has specifically reported data on the potential utility of cfDNA and on tumor-specific mutations in metastatic colorectal cancer (mCRC). Method: Methodological, biological and clinical aspects are discussed based on the most recent development in this specific setting, and eligible studies were identified by systematic literature searched from Pubmed and EMBASE in addition to conference papers and communications. Results: The literature regarding cfDNA in CRC is broad and heterogeneous concerning aims, nomenclature, methods, cohorts and clinical endpoints and consequently difficult to include in a single systematic search. However, the available data underline a strong clinical value of measuring both total cfDNA levels and tumor-specific mutations in the plasma of patients with mCRC, pre-and during systemic therapy. Conclusion: This paper had gathered the most recent literature on several aspects of cfDNA in mCRC, including methodological, biological and clinical aspects, and discussed the large clinical potential in this specific setting, which needs to be validated in carefully designed prospective studies in statistically relevant cohorts.

show abstract

Section: Metastatic Colorectal Cancermentioning

confidence: 99%

Methodological, biological and clinical aspects of circulating free DNA in metastatic colorectal cancer

Spindler

2016

Acta Oncologica

View full text Add to dashboard Cite

show abstract

“…Numerous teams have focused on the development of analytically sensitive assays that allow the spe-cific detection of a single tumor cell or small amounts of tumor-specific cfDNA in the peripheral blood (1)(2)(3)(4)(5). The detection of tumor-specific DNA alterations such as mutations (9 ) and methylation (10,11 ) in cfDNA provides a less invasive, more easily accessible source of DNA for genetic analysis than tumor biopsies. Several studies have described methylation of tumor suppressor genes in serum or plasma samples and in the corresponding primary breast tumors, although DNA methylation was not detected in the plasma or serum of healthy donors (10 ).…”

mentioning

confidence: 99%

SOX17 Promoter Methylation in Circulating Tumor Cells and Matched Cell-Free DNA Isolated from Plasma of Patients with Breast Cancer

et al. 2013

View full text Add to dashboard Cite

INTRODUCTION Detection of circulating tumor cells (CTCs) and cell-free DNA (cfDNA) in the peripheral blood of patients with solid tumors has been widely studied for the early detection of metastatic spread. We evaluated whether there was an association between the origin of cfDNA and CTCs. We investigated whether SRY (sex determining region Y)-box 17 (SOX17) promoter methylation in CTCs was associated with the methylation pattern of this gene in matched cfDNA isolated from plasma of patients with breast cancer. METHODS We examined SOX17 methylation in 79 primary breast tumors, in 114 paired samples of DNA isolated from CTCs and cfDNA, and in 60 healthy individuals. Isolated DNA was modified by sodium bisulfite and subjected to methylation specific PCR. RESULTS The SOX17 promoter was methylated in 68 (86.0%) of 79 of primary breast tumors. In CTCs, SOX17 was methylated in 19 (34.5%) of 55 patients with early breast cancer, 27 (45.8%) of 59 patients with metastatic cancer, and 1 (4.3%) of 23 healthy individuals, whereas in matched cfDNA SOX17 was methylated in 19 (34.5%) of 55, 24 (40.7%) of 59, and 1 (2.0%) of 49 of these same groups, respectively. There was a significant correlation between SOX17 methylation in cfDNA and CTCs in patients with early breast cancer (P = 0.008), but not in patients with verified metastasis (P = 0.283). CONCLUSIONS The SOX17 promoter is highly methylated in primary breast tumors, in CTCs isolated from patients with breast cancer, and in corresponding cfDNA samples. Our findings indicate a direct connection between the presence of CTCs and cfDNA in patients with operable breast cancer, after surgical removal of the primary tumor.

show abstract

“…ctDNA originates from both healthy and tumor cells [47,48] and may have broad clinical applications because it is non-invasive, convenient and ctDNA based assays can be performed repeatedly [49]. DNA released from necrotic malignant cells varies in size, whereas DNA released from apoptotic cells is uniformly truncated into 185-to 200-bp fragments.…”

Section: Circulating Tumor Dna (Ctdna): Quantitative and Qualitative mentioning

confidence: 99%

Liquid biopsies in lung cancer: The new ambrosia of researchers

Rolfo

Castiglia

Hong

et al. 2014

Biochimica et Biophysica Acta (BBA) - Reviews on Cancer

134

124

View full text Add to dashboard Cite

In the last decades the approach to cancer patient management has been deeply revolutionized. We are moving from a "one-fits-all" strategy to the "personalized medicine" based on the molecular characterization of the tumor. In this new era it is becoming more and more clear that the monitoring of the disease is fundamental for the success of the treatment, thus there is the need of new biomarker discovery. More precisely in the last years the scientific community has started to use the term "liquid biopsy". A liquid biopsy is a liquid biomarker that can be easily isolated from many body fluids (blood, saliva, urine, ascites, pleural effusion, etc.) and, as well as a tissue biopsy, a representative of the tissue from which it is spread. In this review we will focus our attention on circulating tumor cells, circulating tumor DNA, exosomes and secretomes with the aim to underlie their usefulness and potential application in a clinical setting for lung cancer patient management.

show abstract

Current status and future potential of somatic mutation testing from circulating free DNA in patients with solid tumours

Cited by 40 publications

References 72 publications

Methodological, biological and clinical aspects of circulating free DNA in metastatic colorectal cancer

Methodological, biological and clinical aspects of circulating free DNA in metastatic colorectal cancer

SOX17 Promoter Methylation in Circulating Tumor Cells and Matched Cell-Free DNA Isolated from Plasma of Patients with Breast Cancer

Liquid biopsies in lung cancer: The new ambrosia of researchers

Contact Info

Product

Resources

About