Targeted next-generation sequencing of plasma DNA from cancer patients: factors influencing consistency with tumour DNA and prospective investigation of its utility for diagnosis
| العنوان: | Targeted next-generation sequencing of plasma DNA from cancer patients: factors influencing consistency with tumour DNA and prospective investigation of its utility for diagnosis |
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| المؤلفون: | Kaisaki, Pamela J., Cutts, Anthony, Popitsch, Niko, Camps, Carme, Pentony, Melissa M., Wilson, Gareth, Page, Suzanne, Kaur, Kulvinder, Vavoulis, Dimitris, Henderson, Shirley, Gupta, Avinash, Middleton, Mark R., Karydis, Ioannis, Talbot, Denis C., Schuh, Anna, Jenny Taylor |
| المصدر: | BASE-Bielefeld Academic Search Engine PLoS ONE |
| سنة النشر: | 2016 |
| مصطلحات موضوعية: | Melanomas, Lung Neoplasms, Physiology, Biopsy, Cancer Treatment, Gene Identification and Analysis, Surgical and Invasive Medical Procedures, Real-Time Polymerase Chain Reaction, Biochemistry, Blood Plasma, Lung and Intrathoracic Tumors, Cancer detection and diagnosis, Neoplasms, Medicine and Health Sciences, Genetics, Humans, Prospective Studies, Melanoma, Mutation Detection, Circulating tumor DNA, Biology and life sciences, High-Throughput Nucleotide Sequencing, Cancers and Neoplasms, DNA, Neoplasm, Hematology, Diagnostic medicine, Body Fluids, Blood, Oncology, Mutation, Somatic Mutation, Anatomy, Biomarkers, Research Article |
| الوصف: | Use of circulating tumour DNA (ctDNA) as a liquid biopsy has been proposed for potential identification and monitoring of solid tumours. We investigate a next-generation sequencing approach for mutation detection in ctDNA in two related studies using a targeted panel. The first study was retrospective, using blood samples taken from melanoma patients at diverse timepoints before or after treatment, aiming to evaluate correlation between mutations identified in biopsy and ctDNA, and to acquire a first impression of influencing factors. We found good concordance between ctDNA and tumour mutations of melanoma patients when blood samples were collected within one year of biopsy or before treatment. In contrast, when ctDNA was sequenced after targeted treatment in melanoma, mutations were no longer found in 9 out of 10 patients, suggesting the method might be useful for detecting treatment response. Building on these findings, we focused the second study on ctDNA obtained before biopsy in lung patients, i.e. when a tentative diagnosis of lung cancer had been made, but no treatment had started. The main objective of this prospective study was to evaluate use of ctDNA in diagnosis, investigating the concordance of biopsy and ctDNA-derived mutation detection. Here we also found positive correlation between diagnostic lung biopsy results and pre-biopsy ctDNA sequencing, providing support for using ctDNA as a cost-effective, non-invasive solution when the tumour is inaccessible or when biopsy poses significant risk to the patient. |
| اللغة: | English |
| تدمد: | 1932-6203 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::30c8599817c653e02c21cefa64f8d6c2Test http://ora.ox.ac.uk/objects/uuidTest: |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.pmid.dedup....30c8599817c653e02c21cefa64f8d6c2 |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 19326203 |
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