Concordance of Genomic Alterations by Next-Generation Sequencing in Tumor Tissue versus Cell-Free DNA in Stage I–IV Non–Small Cell Lung Cancer
| Autor: | Aarthi Balasubramanyam, Sebastian Froehler, Ralph Floegel, H. Jost Achenbach, Rainer Krügel, Alexander F. Lovejoy, Lijing Yao, Frederike Fuhlbrück, Li Tai Fang, Hans-Peter Adams, Nalin Tikoo, John Jiang, John F. Palma, Stephanie J. Yaung, Preeti Lal |
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| Rok vydání: | 2020 |
| Předmět: |
Adult
Male 0301 basic medicine Oncology medicine.medical_specialty Lung Neoplasms Genotype Concordance Disease Polymorphism Single Nucleotide DNA sequencing Circulating Tumor DNA Pathology and Forensic Medicine 03 medical and health sciences 0302 clinical medicine Carcinoma Non-Small-Cell Lung Internal medicine Genetic variation Biomarkers Tumor Odds Ratio Humans Medicine Genetic Predisposition to Disease Stage (cooking) Lung cancer Genotyping Alleles Genetic Association Studies Aged Neoplasm Staging Aged 80 and over business.industry Genetic Variation High-Throughput Nucleotide Sequencing DNA Neoplasm Middle Aged medicine.disease 030104 developmental biology Cell-free fetal DNA 030220 oncology & carcinogenesis Mutation Molecular Medicine Female business |
| Zdroj: | The Journal of Molecular Diagnostics. 22:228-235 |
| ISSN: | 1525-1578 |
| Popis: | Molecular biomarkers hold promise for personalization of cancer treatment. However, a typical tumor biopsy may be difficult to acquire and may not capture genetic variations within or across tumors. Given these limitations, tumor genotyping using next-generation sequencing of plasma-derived circulating tumor (ct)-DNA has the potential to transform non-small cell lung cancer (NSCLC) management. Importantly, mutations detected in biopsied tissue must also be detected in plasma-derived ctDNA at different disease stages. Using the AVENIO ctDNA Surveillance kit (research use only), mutations in ctDNA from NSCLC subjects were compared with those identified in matched tumor tissue samples, retrospectively. Plasma and tissue samples were collected from 141 treatment-naïve NSCLC subjects (stage I, n = 48; stage II, n = 37; stage III, n = 33; stage IV, n = 23). In plasma samples, the median numbers of variants per subject were 4, 6, 8, and 9 in those with stage I, II, III, and IV disease, respectively. The corresponding values in tissue samples were 5, 5, 6, and 4. The overall tissue-plasma concordance of stage II through IV was 62.2% by AVENIO software call. On multivariate analysis, concordance was positively and significantly associated with tumor size and cancer stage. Next-generation sequencing-based analyses with the AVENIO ctDNA Surveillance kit could be an alternative approach to detecting genetic variations in plasma-derived ctDNA isolated from NSCLC subjects. |
| Databáze: | OpenAIRE |
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