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Signals Alongside Scans: A Genomics-Guided Framework for Liquid Biopsy in Bone and Soft-Tissue Sarcomas
Ibrahim Alabid1, Ali Jad Yousef2, Mohamedanas Mohamedfaruk Patni3
1MBBS, RAK College of Medical Sciences, Ras Al Khaimah Medical and Health Sciences University (RAKMHSU), Ras Al Khaimah 11172, United Arab Emirates.
Background:
Bone and soft-tissue sarcomas are rare, heterogeneous malignancies whose surveillance remains dominated by imaging despite substantial molecular diversity and variable patterns of relapse. Circulating tumor DNA (ctDNA) and circulating tumor cells (CTCs) offer minimally invasive approaches for monitoring tumor biology, but their performance in sarcoma depends strongly on subtype, disease burden, assay design, and biological shedding.
Methods:
This narrative review synthesizes evidence published from 2015 to 2026 on ctDNA and CTCs for baseline risk assessment, treatment-response monitoring, minimal residual disease (MRD) detection, molecular relapse, and integration with imaging-based surveillance in bone and soft-tissue sarcomas.
Results:
Current evidence supports a genomics-guided framework in which liquid-biopsy strategy is selected according to sarcoma subtype, molecular architecture, and clinical purpose. ctDNA is the most mature analyte, with best-supported evidence in osteosarcoma, where tumor-informed assays predict postoperative relapse, and in translocation-associated sarcomas, where breakpoint-guided assays enable highly specific longitudinal monitoring. Copy-number-based approaches are relevant for complex-karyotype tumors, while mutation-, methylation-, fragmentomic-, and RNA-based strategies may be useful in selected contexts. However, detection rates vary, false-negative results occur in low-shedding or low-volume disease, and clinical utility for changing treatment remains incompletely established. CTCs provide complementary cellular and prognostic information, particularly in osteosarcoma, but remain limited by platform heterogeneity and incomplete standardization.
Conclusion:
Liquid biopsy may refine risk stratification, support treatment-response assessment, clarify indeterminate imaging findings, and identify molecular relapse in selected sarcoma patients. At present, it should be interpreted as an adjunct to imaging and specialist multidisciplinary care rather than as a replacement for standard radiologic surveillance.
Insights
Liquid biopsy using circulating tumor DNA (ctDNA) and circulating tumor cells (CTCs) shows promise for monitoring bone and soft-tissue sarcomas, aiding in risk stratification and relapse detection alongside imaging.
Area of Science:
- Oncology
- Molecular Diagnostics
- Genomics
Background:
- Bone and soft-tissue sarcomas are rare, heterogeneous cancers with diverse relapse patterns.
- Current surveillance relies heavily on imaging, despite advances in understanding tumor biology.
- Minimally invasive methods like circulating tumor DNA (ctDNA) and circulating tumor cells (CTCs) show potential for monitoring sarcoma.
Purpose of the Study:
- To review evidence on ctDNA and CTCs for sarcoma surveillance from 2015-2026.
- To assess their utility in risk assessment, treatment response, minimal residual disease (MRD) detection, and molecular relapse.
- To evaluate their integration with current imaging-based surveillance strategies.
Main Methods:
- Narrative review of studies published between 2015 and 2026.
- Focus on ctDNA and CTCs in bone and soft-tissue sarcomas.
- Analysis of applications including risk stratification, treatment monitoring, MRD detection, and relapse identification.
Main Results:
- A genomics-guided liquid biopsy approach is recommended, tailored to sarcoma subtype and molecular characteristics.
- ctDNA assays, particularly tumor-informed and breakpoint-guided, show strong evidence in osteosarcoma and translocation-associated sarcomas.
- Detection rates vary, with limitations in low-volume disease; CTCs offer complementary data but face standardization challenges.
Conclusions:
- Liquid biopsy can enhance risk stratification, treatment assessment, and molecular relapse detection in select sarcoma patients.
- It serves as an adjunct to imaging and multidisciplinary care, not a replacement for standard radiologic surveillance.
- Further standardization and validation are needed to fully establish clinical utility.
