Detection and utility of cell-free and circulating tumour DNA in bone and soft-tissue sarcomas
| العنوان: | Detection and utility of cell-free and circulating tumour DNA in bone and soft-tissue sarcomas |
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| المؤلفون: | Jay S. Wunder, Paige Darville-O'Quinn, Kim Tsoi, Ainaz Malekoltojari, Patrick Prochazka, Irene L. Andrulis, Peter C. Ferguson, Anthony M. Griffin, Nalan Gokgoz |
| المصدر: | Bone & Joint Research, Vol 10, Iss 9, Pp 602-610 (2021) Bone & Joint Research |
| بيانات النشر: | The British Editorial Society of Bone & Joint Surgery, 2021. |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | sarcoma, carcinomas, dnas, polymerase chain reaction, Mirels, circulating tumour dna, soft-tissue sarcomas, Cell free, Diseases of the musculoskeletal system, law.invention, Validity, chemistry.chemical_compound, law, blood, quantitative pcr, cancers, Medicine, Orthopedics and Sports Medicine, sarcomas, Polymerase chain reaction, chondrosarcoma, business.industry, Soft tissue, biomarkers, medicine.disease, Pathological Fracture, cell-free dna, Real-time polymerase chain reaction, chemistry, Cell-free fetal DNA, Oncology, RC925-935, Cancer research, Surgery, Sarcoma, Chondrosarcoma, business, DNA |
| الوصف: | Aims Cell-free DNA (cfDNA) and circulating tumour DNA (ctDNA) are used for prognostication and monitoring in patients with carcinomas, but their utility is unclear in sarcomas. The objectives of this pilot study were to explore the prognostic significance of cfDNA and investigate whether tumour-specific alterations can be detected in the circulation of sarcoma patients. Methods Matched tumour and blood were collected from 64 sarcoma patients (n = 70 samples) prior to resection of the primary tumour (n = 57) or disease recurrence (n = 7). DNA was isolated from plasma, quantified, and analyzed for cfDNA. A subset of cases (n = 6) underwent whole exome sequencing to identify tumour-specific alterations used to detect ctDNA using digital droplet polymerase chain reaction (ddPCR). Results Cell-free was present in 69 of 70 samples above 0.5 ng/ml. Improved disease-free survival was found for patients with lower cfDNA levels (90% vs 48% at one-year for ≤ 6 ng/ml and > 6 ng/ml, respectively; p = 0.005). Digital droplet PCR was performed as a pilot study and mutant alleles were detectable at 0.5% to 2.5% of the wild type genome, and at a level of 0.25 ng tumour DNA. Tumour-specific alterations (ctDNA) were found in five of six cases. Conclusion This work demonstrates the feasibility and potential utility of cfDNA and ctDNA as biomarkers for bone and soft-tissue sarcomas, despite the lack of recurrent genomic alterations. A larger study is required to validate these findings. Cite this article: Bone Joint Res 2021;10(9):602–610. |
| اللغة: | English |
| تدمد: | 2046-3758 |
| الوصول الحر: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3b19ca94b4a396f7d923962d1fb7c03aTest https://online.boneandjoint.org.uk/doi/epdf/10.1302/2046-3758.109.BJR-2021-0014.R1Test |
| حقوق: | OPEN |
| رقم الانضمام: | edsair.doi.dedup.....3b19ca94b4a396f7d923962d1fb7c03a |
| قاعدة البيانات: | OpenAIRE |
| تدمد: | 20463758 |
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