Abstract
Sarcomas are rare tumors of bone and soft tissue with a mesenchymal origin. This uncommon type of cancer is marked by a high heterogeneity, consisting of over 70 subtypes. Because of this broad spectrum, their treatment requires a subtype-specific therapeutic approach. Tissue biopsy is currently the golden standard for sarcoma diagnosis, but it has its limitations. Over the recent years, methods to detect, characterize, and monitor cancer through liquid biopsy have evolved rapidly. The analysis of circulating biomarkers in peripheral blood, such as circulating tumor cells (CTC) or circulating tumor DNA (ctDNA), could provide real-time information on tumor genetics, disease state, and resistance mechanisms. Furthermore, it traces tumor evolution and can assess tumor heterogeneity. Although the first results in sarcomas are encouraging, there are technical challenges that need to be addressed for implementation in clinical practice. Here, we summarize current knowledge about liquid biopsies in sarcomas and elaborate on different strategies to integrate liquid biopsy into sarcoma clinical care.
Highlights
A total of 107 plasma samples of 73 malignant peripheral nerve sheath tumor (MPNST) patients, plexiform neurofibroma (PN) patients, or healthy individuals were analyzed for copy number alterations (CNA) to estimate the total amount of cell-free DNA (cfDNA) derived from the tumor
Total cfDNA levels post-operatively were compared with matched levels at the point of disease recurrence and were not shown to be significantly different [32]. This is in contrast with an earlier study by the same authors, in which significantly elevated cfDNA levels were found in the samples of metastatic sarcoma patients of different subtypes, positively correlated with disease burden [33]
A similar approach of liquid biopsy to guide therapy selection using digital droplet PCR (ddPCR) was explored in Gastro-intestinal stromal tumors (GISTs) patients using liquid biopsy to detect mutations, which can be targeted by the tyrosine kinase inhibitor (TKI) imatinib [28]
Summary
Publisher’s Note: MDPI stays neutral with regard to jurisdictional claims in published maps and institutional affiliations. Biomarkers detected by liquid biopsy include circulating tumor cells or nucleic acids, exosomes, tumor educated platelets, and others, providing information on the feature of primary tumors or metastases [1,2]. Sarcomas form a heterogeneous group of malignant tumors arising in bone and soft tissues throughout the body, originating from mesenchymal cells. This uncommon group of tumors accounts for 1% of adult malignancies and consists of over 70 subtypes according to the WHO [17]. Because of the rarity and large heterogeneity of sarcomas, studies on liquid biopsy in this cancer type are usually limited to a small number of patients per subtype, which makes it difficult to demonstrate its prognostic value and clinical utility. We will summarize recent advantages, challenges, and perspectives in the area of liquid biopsy in sarcomas
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