Evaluating Circulating Biomarkers for Diagnosis, Prognosis, and Tumor Monitoring in Pediatric Sarcomas: Recent Advances and Future Directions
Open accessAbstract
Pediatric sarcomas present a significant challenge in oncology. There is an urgent need for improved therapeutic strategies for high-risk patients and better management of long-term side effects for those who survive the disease. Liquid biopsy is emerging as a promising tool to optimize treatment in these patients by offering non-invasive, repeatable assessments of disease status. Circulating biomarkers can provide valuable insights into tumor genetics and treatment response, potentially facilitating early diagnosis and dynamic disease monitoring. This review examines the potential of liquid biopsies, focusing on circulating biomarkers in the most common pediatric sarcomas, i.e., osteosarcoma, Ewing sarcoma, and rhabdomyosarcoma. We also highlight the current research efforts and the necessary advancements required before these technologies can be widely adopted in clinical practice.
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Dynamic longitudinal change may be more informative than end-treatment values alone in pediatric sarcomas.
“In pediatric sarcomas specifically, prior studies showed that ctDNA detectability and prognostic impact can vary by subtype, disease burden, and assay design (e.g., fusion-based vs. broader panels), suggesting that dynamic longitudinal change may be more informative than end-treatment values alone [38,39].”
From Circulating Tumor DNA and microRNA–Based Liquid Biopsy for Longitudinal Treatment Monitoring and Recurrence Prediction in Pediatric Sarcomas: A Prospective Cohort Study (2026) · cites this paper as [38]
Section 3.2 (page unavailable) describes ctDNA monitoring during treatment, associations with tumor burden and outcomes, and different detection methods across pediatric sarcoma subtypes. It supports the rationale for tracking change over time, but does not compare longitudinal changes with end-of-treatment values or establish that they are more informative. (LLM, conf=0.84)
Experimental — accuracy not yet measuredIn pediatric sarcomas, ctDNA detectability and prognostic impact can vary by subtype, disease burden, and assay design (e.g., fusion-based vs. broader panels).
“In pediatric sarcomas specifically, prior studies showed that ctDNA detectability and prognostic impact can vary by subtype, disease burden, and assay design (e.g., fusion-based vs. broader panels), suggesting that dynamic longitudinal change may be more informative than end-treatment values alone [38,39].”
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Boaru, D. L., León-Oliva, D. D., Castro-Martinez, P. D., Montero, C. G., Fraile‐Μartinez, O., García-González, B., Pérez-González, I., Alhaddadin, M. N. M., Barrena-Blázquez, S., López-González, L., et al. (2025) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2025.118422 · Cited by 23 · see citing works
From imaging to omics: deep learning is bridging MRI and liquid biopsy in bone tumor diagnosis
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“…sarcomas specifically, prior studies showed that ctDNA detectability and prognostic impact can vary by subtype, disease burden, and assay design (e.g., fusion-based vs. broader panels), suggesting that dynamic longitudinal change may be more informative than end-treatment values alone [38,39].”
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- Authors
- Maqueda, J. J., De Feo, A., & Scotlandi, K.
- Affiliations
- Istituto Ortopedico Rizzoli (IT)
- Laboratory of Experimental Oncology, IRCCS Istituto Ortopedico Rizzoli, 40136 Bologna, Italy
- Corresponding author
- Maqueda, Joaquín J.
- Venue
- Biomolecules
- Publisher
- MDPI AG
- Published
- 2024-10-16
- Volume
- 14
- Issue
- 10
- Pages
- 1306
- ISSN
- 2218-273X (ISSN-L)
- PMC
- PMC11506719
- OpenAlex
- W4403519522
- Cited by
- 4
- References
- 149
- Citations by year
- 2026: 3 · 2025: 1
- FWCI
- 0.30
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- Biomolecules (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- European Union’s Horizon 2020 research and innovation programme (956285)
- Italian Ministry of Health, Ricerca Corrente (956285)
- 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 › Public Health, Environmental and Occupational Health › Acute Lymphoblastic Leukemia research
- Keywords
- pediatric sarcoma, circulating biomarkers, liquid biopsy, osteosarcoma, Ewing sarcoma, rhabdomyosarcoma, cancer monitoring, diagnosis, prognosis, treatment response, late effects
- MeSH terms
- Liquid Biopsy, Bone Neoplasms, Child, Humans, Prognosis, Rhabdomyosarcoma, Sarcoma, Sarcoma, Ewing, Osteosarcoma, Biomarkers, Tumor
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