Supporting data for "Evaluation of feasibility of cell-free DNA analysis as non- invasive diagnostic test on sarcomas"

<p dir="ltr">Sarcoma encompasses a heterogeneous group of malignancies that originate from mesenchymal cells. These tumours are broadly classified into two main categories, namely soft tissue sarcomas and bone sarcomas. There are over 100 recognized subtypes, each exhibits variability in clinical presentation and therapeutic management. Currently, definitive diagnosis is established through histopathological evaluation of tissue obtained via tissue biopsy, which is an invasive procedure associated with potential risks and complications. The collected cellular material is then examined microscopically by pathologists to assess for the presence of malignancy and subtyping.</p><p dir="ltr">It is postulated that cancerous cells undergoing apoptosis and necrosis release DNA fragments into the bloodstream, which are referred to as circulating tumour DNA (ctDNA). ctDNA is increasingly recognized as a valuable biomarker for cancer detection and monitoring, hence giving rise to a method collectively termed liquid biopsy. This approach has been well-established in the screening and surveillance of various malignancies. Based on these findings, there is growing interest in evaluating the applicability of liquid biopsy for the diagnosis of sarcoma. </p><p dir="ltr">This study is organized into two primary sections. The first section examines the diagnostic potential of liquid biopsy for atypical lipomatous tumours/well-differentiated liposarcomas (ALT/WDLPS) and dedifferentiated liposarcoma (DDLPS). The second section extends the investigation to other sarcoma subtypes, with focuses on genetic variants detection and the application of cell-free DNA (cfDNA) fragmentomics.</p>