Osteosarcoma: Novel prognostic biomarkers using circulating and cell-free tumour DNA

Lyskjær, Iben; Kara, N.; Noon, Solange De; Davies, Christopher; Rocha, Ana Maia; Strobl, Anna‐Christina; Usher, Inga; Gerrand, Craig; Strauss, Sandra J.; Schrimpf, Daniel; Deimling, Andreas von; Beck, Stephan; Flanagan, Adrienne M.

doi:10.1016/j.ejca.2022.03.002

Cited by 10 publications

(6 citation statements)

References 41 publications

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“…Apart from demonstrating the prognostic significance of the analysis of fragmentation patterns, the authors also postulated, that this method improves the reliability of liquid biopsy, as it enables precise quantification of ctDNA, tumor detection, and classification, independently of genetic aberrations [105]. The other genetic aberration-independent approach to ctDNA analysis -a methylation-based assay -has also been tested in osteosarcoma patients, corroborating the correlation of high ctDNA level with poor prognosis [106]. The great potential strength of genetic aberrations-independent methods for ctDNA detection is their wide applicability in tumors, which do not have specific, recurrent genetic aberrations [105,106].…”

Section: Genetic Biomarkersmentioning

confidence: 89%

Novel biomarkers in bone sarcomas — diagnosis, treatment selection, and clinical trials

Czarnecka,

Błoński,

Chmiel

et al. 2024

Oncol Clin Pract

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Malignant bone tumors (MBT) are a rare and heterogeneous group of tumors, arising mostly in children. Localized disease is usually treated with surgery, but prognosis worsens in advanced stages. Currently, with limited biomarkers in clinical use, prognosis depends on histological grading and clinical features. However, the use of biomarkers remains inadequate, limiting treatment efficacy and increasing the risk of recurrence and disease progression for patients. Potential biomarkers based on genomics, proteomics, and clinical characteristics are currently entering clinical use in multiple cancers. Biomarker research in MBT faces additional challenges resulting from the rarity of these entities. Emerging biomarker concepts require clinical validation to create robust frameworks for precision oncology. This review of new biomarkers is based on relevant literature from Pubmed, Scopus, and clinicatrials.gov databases retrieved in November 2023. At present, the definition of prognostic markers in malignant bone tumors remains challenging. More research is needed, particularly to tailor treatments based on advanced genetic profiling and analysis of individual tumor and patient characteristics. Many newly identified biomarkers have not been clinically validated.

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Section: Genetic Biomarkersmentioning

confidence: 89%

Novel biomarkers in bone sarcomas — diagnosis, treatment selection, and clinical trials

Czarnecka,

Błoński,

Chmiel

et al. 2024

Oncol Clin Pract

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“…Like circulating tumor cells, cfDNA reflects the genetic aberrations of osteosarcoma cells at a given time [ 117 ]. Interestingly, cfDNA detection was associated with inferior outcomes in osteosarcoma and thus appears to be a promising tool for disease surveillance in bone sarcoma [ 118 , 119 ••, 120 ]. The recent literature showed the clinical potential of liquid biopsies, and large longitudinal clinical trials are mandatory for validating their use for prognostic or predictive biomarkers.…”

Section: Discussionmentioning

confidence: 99%

Advances in Osteosarcoma

Panez-Toro,

Muñoz-García,

Vargas-Franco

et al. 2023

Curr Osteoporos Rep

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Purpose of Review This article gives a brief overview of the most recent developments in osteosarcoma treatment, including targeting of signaling pathways, immune checkpoint inhibitors, drug delivery strategies as single or combined approaches, and the identification of new therapeutic targets to face this highly heterogeneous disease. Recent Findings Osteosarcoma is one of the most common primary malignant bone tumors in children and young adults, with a high risk of bone and lung metastases and a 5-year survival rate around 70% in the absence of metastases and 30% if metastases are detected at the time of diagnosis. Despite the novel advances in neoadjuvant chemotherapy, the effective treatment for osteosarcoma has not improved in the last 4 decades. The emergence of immunotherapy has transformed the paradigm of treatment, focusing therapeutic strategies on the potential of immune checkpoint inhibitors. However, the most recent clinical trials show a slight improvement over the conventional polychemotherapy scheme. Summary The tumor microenvironment plays a crucial role in the pathogenesis of osteosarcoma by controlling the tumor growth, the metastatic process and the drug resistance and paved the way of new therapeutic options that must be validated by accurate pre-clinical studies and clinical trials.

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“…Genetically, it shows complex translocations and copy number alterations, 8q gain being the most common one. 14 , 17 …”

Section: Discussionmentioning

confidence: 99%

Circulating Cell-Free Tumor Deoxyribonucleic Acid Analysis as a Tool for the Diagnosis and Monitoring of Pediatric Solid Tumors

Zaninović¹,

Bašković²,

Bojanac³

et al. 2023

Turk Arch Pediatr

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The utility of cell-free tumor deoxyribonucleic acid analysis is currently being evaluated in a wide range of clinical studies. The validity of cell-free tumor deoxyribonucleic acid analysis methods used for screening and detecting malignant diseases, monitoring the effectiveness of treatment and disease progression, and identifying potential relapse is tested. Molecular technologies used for cell-free tumor deoxyribonucleic acid analysis include targeted polymerase chain reaction assays and next-generation sequencing approaches along with newly introduced epigenetic analysis methods such as methylation-specific polymerase chain reaction. The aim of this review was to compare the methods, pitfalls, and advantages of tests developed for the analysis of cell-free tumor deoxyribonucleic acid in the diagnosis and treatment of pediatric solid tumors. For this purpose, the PubMed database was searched for articles published in the last 10 years, in English, that investigated a human cohort aged 0 to 18 years. A total of 272 references were analyzed. A total of 33 studies were included in the review. Cell-free tumor deoxyribonucleic acid analysis has emerged as a promising novel approach that could potentially bring a significant improvement in the field of pediatric oncology, but the implementation of cell-free tumor deoxyribonucleic acid in clinical practice is largely hindered by the lack of standardized methods for processing and analysis.

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Osteosarcoma: Novel prognostic biomarkers using circulating and cell-free tumour DNA

Cited by 10 publications

References 41 publications

Novel biomarkers in bone sarcomas — diagnosis, treatment selection, and clinical trials

Novel biomarkers in bone sarcomas — diagnosis, treatment selection, and clinical trials

Advances in Osteosarcoma

Circulating Cell-Free Tumor Deoxyribonucleic Acid Analysis as a Tool for the Diagnosis and Monitoring of Pediatric Solid Tumors

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