Clinical utility of tumor genomic profiling in patients with high plasma circulating tumor DNA burden or metabolically active tumors
Autor: | Travis A. Clark, Weijie Ma, Jay Gong, Zilong Yuan, David K. Shelton, Dean Pavlick, Brady Forcier, Elizabeth H Moore, Hong Li, Matthew Cooke, Vincent A. Miller, Michael Molmen, Reggie R. Fan, Garrett M. Frampton, Siraj M. Ali, Ying Li, Angelique Mahavongtrakul, Cathy Zhou, Jin Li, Tianhong Li, Lihong Qi, Jeffrey P. Gregg, Philip J. Stephens |
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Rok vydání: | 2018 |
Předmět: |
Male
0301 basic medicine Oncology Cancer Research Cardiorespiratory Medicine and Haematology Circulating Tumor DNA Positron emission tomography (PET) scan Cell-free DNA Plasma 0302 clinical medicine Positron Emission Tomography Computed Tomography Cancer Whole blood Hematology Next-generation sequencing (NGS) High-Throughput Nucleotide Sequencing lcsh:Diseases of the blood and blood-forming organs Genomics Middle Aged lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens Genomic alterations (GAs) 030220 oncology & carcinogenesis Female Fresh frozen plasma Circulating tumor DNA (ctDNA) Adult Maximum somatic allele frequency medicine.medical_specialty Concordance Oncology and Carcinogenesis lcsh:RC254-282 Maximum standardized uptake value 03 medical and health sciences Clinical Research Cell-free DNA (cfDNA) Internal medicine Maximum standardized uptake value (SUVmax) Genetics medicine Humans In patient Genetic Testing Molecular Biology Allele frequency Retrospective Studies Aged Genomic alterations lcsh:RC633-647.5 business.industry Research Human Genome Maximum somatic allele frequency (MSAF) Retrospective cohort study medicine.disease Good Health and Well Being 030104 developmental biology Next-generation sequencing business |
Zdroj: | Journal of hematology & oncology, vol 11, iss 1 Journal of Hematology & Oncology, Vol 11, Iss 1, Pp 1-13 (2018) Journal of Hematology & Oncology |
ISSN: | 1756-8722 |
Popis: | Background This retrospective study was undertaken to determine if the plasma circulating tumor DNA (ctDNA) level and tumor biological features in patients with advanced solid tumors affected the detection of genomic alterations (GAs) by a plasma ctDNA assay. Method Cell-free DNA (cfDNA) extracted from frozen plasma (N = 35) or fresh whole blood (N = 90) samples were subjected to a 62-gene hybrid capture-based next-generation sequencing assay FoundationACT. Concordance was analyzed for 51 matched FoundationACT and FoundationOne (tissue) cases. The maximum somatic allele frequency (MSAF) was used to estimate the amount of tumor fraction of cfDNA in each sample. The detection of GAs was correlated with the amount of cfDNA, MSAF, total tumor anatomic burden (dimensional sum), and total tumor metabolic burden (SUVmax sum) of the largest ten tumor lesions on PET/CT scans. Results FoundationACT detected GAs in 69 of 81 (85%) cases with MSAF > 0. Forty-two of 51 (82%) cases had ≥ 1 concordance GAs matched with FoundationOne, and 22 (52%) matched to the National Comprehensive Cancer Network (NCCN)-recommended molecular targets. FoundationACT also detected 8 unique molecular targets, which changed the therapy in 7 (88%) patients who did not have tumor rebiopsy or sufficient tumor DNA for genomic profiling assay. In all samples (N = 81), GAs were detected in plasma cfDNA from cancer patients with high MSAF quantity (P = 0.0006) or high tumor metabolic burden (P = 0.0006) regardless of cfDNA quantity (P = 0.2362). Conclusion This study supports the utility of using plasma-based genomic assays in cancer patients with high plasma MSAF level or high tumor metabolic burden. |
Databáze: | OpenAIRE |
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