The DOI matches its Crossref record; 39 of the 39 references it cites were found in a registry or an index.
Detection and utility of cell-free and circulating tumour DNA in bone and soft-tissue sarcomas
Open accessAbstract
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.
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“Commercial or large-panel plasma profiling may identify clinically relevant alterations in selected advanced cases, but variable tissue–plasma concordance, low tumor fraction, and inconsistent copy-number detection limit its use as a general surveillance strategy [ 32 , 33 , 34 , 35 , 36 ].”
From Signals Alongside Scans: A Genomics-Guided Framework for Liquid Biopsy in Bone and Soft-Tissue Sarcomas (2026) · cites this paper as [36]
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Liquid biopsies come of age: Towards implementation of circulating tumour DNA
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Non-Invasive Analysis of Acquired Resistance to Cancer Therapy By Sequencing of Plasma Dna
(2014) · Annals of Oncology · doi:10.1093/annonc/mdu312.5 · Cited by 1,174
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Fan, H. C., Blumenfeld, Y. J., Chitkara, U., Hudgins, L., & Quake, S. R. (2008) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0808319105 · Cited by 1,110
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- Hemming ML, 2019, JCO Precis Oncol, 2019
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Unlocking the Potential of ctDNA in Sarcomas: A Review of Recent Advances
Aiyer, S., Kim, T.-H., Collier, K., Pollock, R., Verschraegen, C., Stover, D. G., & Tinoco, G. (2025) · Cancers · doi:10.3390/cancers17061040 · Cited by 11
Predicting five-year mortality in soft-tissue sarcoma patients
Yeramosu, T., Ahmad, W., Bashir, A., Wait, J., Bassett, J. S., & Domson, G. F. (2023) · The Bone & Joint Journal · doi:10.1302/0301-620x.105b6.bjj-2022-0998.r1 · Cited by 10
Investigating the Use of Circulating Tumor DNA for Sarcoma Management
Darville-O’Quinn, P., Gökgöz, N., Tsoi, K. M., Andrulis, I. L., & Wunder, J. S. (2024) · Journal of Clinical Medicine · doi:10.3390/jcm13216539 · Cited by 8
Self-citationNovel Molecular Methods in Soft Tissue Sarcomas: From Diagnostics to Theragnostics
Frazzette, N., & Jour, G. (2025) · Cancers · doi:10.3390/cancers17071215 · Cited by 8
Guan, X., Gong, X., Jiao, Z., Cao, H., Liu, S., Lin, C. X., Huang, X., Lan, H., Ma, L., & Xu, B. Y. (2022) · Bone and Joint Research · doi:10.1302/2046-3758.1111.bjr-2022-0018.r1 · Cited by 6
Metadata
- Authors
- Tsoi, K. M., Gokgoz, N., Darville-O'Quinn, P., Prochazka, P., Malekoltojari, A., Griffin, A. M., Ferguson, P. C., Wunder, J. S., & Andrulis, I. L.
- Affiliations
- University of Toronto (CA)
- Lunenfeld-Tanenbaum Research Institute, Sinai Health System, Toronto, Canada
- Lunenfeld-Tanenbaum Research Institute (CA)
- Corresponding author
- Tsoi, Kim M.
- ORCID
- Venue
- Bone & Joint Research
- Published
- 2021-09-01
- Volume
- 10
- Issue
- 9
- Pages
- 602-610
- ISSN
- 2046-3758 (ISSN-L)
- PMC
- PMC8479566
- OpenAlex
- W3201200552
- Cited by
- 17
- References
- 39
- Citations by year
- 2026: 5 · 2025: 8 · 2024: 2 · 2023: 1 · 2022: 1
- FWCI
- 0.40
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Bone and Joint Research (publishedVersion, cc-by-nc-nd)
- PubMed Central (publishedVersion, cc-by-nc-nd)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Health Sciences › Medicine › Oncology › Sarcoma Diagnosis and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Chromatin Remodeling and Cancer
- Keywords
- cell-free DNA, circulating tumor DNA, bone sarcoma, soft tissue sarcoma, prognostic factors, disease-free survival, liquid biopsy, droplet digital PCR
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