Precision medicine in diagnosis, prognosis, and disease monitoring of bone and soft tissue sarcomas using liquid biopsy: A systematic review
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INTRODUCTION: Liquid biopsy as a non-invasive method to investigate cancer biology and monitor residual disease has gained significance in clinical practice over the years. Whilst its applicability in carcinomas is well established, the low incidence and heterogeneity of bone and soft tissue sarcomas explains the less well-established knowledge considering liquid biopsy in these highly malignant mesenchymal neoplasms. MATERIALS AND METHODS: A systematic literature review adhering to the PRISMA guidelines initially identified 920 studies, of whom 68 original articles could be finally included, all dealing with clinical applicability of liquid biopsy in sarcoma. Studies were discussed within two main chapters, i.e. translocation-associated and complex-karyotype sarcomas. RESULTS: Overall, data on clinical applicability of liquid biopsy in 2636 patients with > 10 different entities of bone and soft tissue sarcomas could be summarised. The five most frequent tumour entities included osteosarcoma (n = 602), Ewing sarcoma (n = 384), gastrointestinal stromal tumour (GIST; n = 203), rhabdomyosarcoma (n = 193), and leiomyosarcoma (n = 145). Of 11 liquid biopsy analytes, largest evidence was present for ctDNA and cfDNA, investigated in 26 and 18 studies, respectively. CONCLUSIONS: This systematic literature review provides an extensive up-to-date overview about the current and potential future uses of different liquid biopsy modalities as diagnostic, prognostic, and disease monitoring markers in sarcoma.
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Sarcoma diversity includes distinct molecular architectures ranging from translocation-associated tumors with relatively simple genomic profiles to complex-karyotype sarcomas with widespread copy-number alterations, structural instability, methylation changes, and substantial intertumoral heterogeneity.
“Their diversity extends beyond histology to include distinct molecular architectures, ranging from translocation-associated tumors with relatively simple genomic profiles to complex-karyotype sarcomas characterized by widespread copy-number alterations, structural instability, methylation changes, and substantial intertumoral heterogeneity [ 3 , 4 ].”
From Signals Alongside Scans: A Genomics-Guided Framework for Liquid Biopsy in Bone and Soft-Tissue Sarcomas (2026) · cites this paper as [4]
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Braig, D., Runkel, A., Eisenhardt, A. E., et al. (2022) · International Journal of Molecular Sciences · doi:10.3390/ijms231810215 · Cited by 6 · see citing works
Rapid and highly sensitive approach for multiplexed somatic fusion detection
Abbou, S. D., Finstuen-Magro, S., McDannell, B., Feenstra, M., Ward, A., Shulman, D. S., Geoerger, B., Duplan, J., Comeau, H., Janeway, K. A., et al. (2022) · Modern Pathology · doi:10.1038/s41379-022-01058-y · Cited by 5 · see citing works
Flagged first, then by citations
Research works printed but not linked: 2
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Cited by
Sorted by citations
Alabid, I., Yousef, A. J., Patni, M. M., Aloti, R. A., Qassim, Z. A.-A. M., Alothman-Agha, A. A., Hamdy, H. A., Noury, F. M., & Abdelfattah, M. T. (2026) · Cells · doi:10.3390/cells15141271
- Authors
- Smolle, M. A., Seidel, M. G., Kashofer, K., Liegl-Atzwanger, B., Sadoghi, P., Müller, D. A., & Leithner, A.
- Affiliations
- Medical University of Graz (AT)
- University of Zurich (CH)
- Corresponding author
- Leithner, Andreas
- Venue
- Archives of Orthopaedic and Trauma Surgery
- Published
- 2025-01-11
- Volume
- 145
- Issue
- 1
- Pages
- 121-121
- ISSN
- 0936-8051 (ISSN-L)
- 1434-3916
- PMC
- PMC11724793
- OpenAlex
- W4406274630
- Cited by
- 16
- References
- 83
- Citations by year
- 2026: 16
- FWCI
- 2.76
- Type
- journal article
- Language
- en
- Open access
- hybrid
- doi.org
- Locations
- Archives of Orthopaedic and Trauma Surgery (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- Zurich Open Repository and Archive (University of Zurich) (submittedVersion, cc-by)
- Funders
- Medical University of Graz
- Topics
- Health Sciences › Medicine › Pulmonary and Respiratory Medicine › Sarcoma Diagnosis and Treatment
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cancer Research › Cancer Genomics and Diagnostics
- Health Sciences › Medicine › Rheumatology › Bone Tumor Diagnosis and Treatments
- Keywords
- liquid biopsy, bone and soft tissue sarcoma, osteosarcoma, Ewing sarcoma, gastrointestinal stromal tumor, rhabdomyosarcoma, leiomyosarcoma, circulating tumor DNA, cell-free DNA, disease surveillance, prognosis, diagnosis
- MeSH terms
- Liquid Biopsy, Bone Neoplasms, Humans, Prognosis, Sarcoma, Osteosarcoma, Soft Tissue Neoplasms, Biomarkers, Tumor, Precision Medicine
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
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