Cell-free DNA in blood as a noninvasive insight into the sarcoma genome

Mol Aspects Med. 2020 Apr;72:100827. doi: 10.1016/j.mam.2019.10.004. Epub 2019 Nov 6.


Sarcomas are malignant tumors of mesenchymal origin that arise mainly from connective and supportive tissue. Sarcomas include a wide range of histological subtypes, showing a large diversity at the molecular level, from simple to highly complex karyotypes but with few recurrent somatic changes. Therapeutic decisions increasingly rely on the molecular characteristics of the individual tumor. Circulating cell-free DNA (ctDNA) is released into peripheral blood and can be used for the genomic analysis of sarcomas. However, the diversity and heterogeneity of somatic changes observed in sarcomas pose a challenge when choosing an adequate assay for the detection of ctDNA in body fluids. In this review, we provide an overview of different studies on ctDNA from blood in bone and soft tissue sarcomas, including gastrointestinal stromal tumors. We will specifically address the technological challenges that must be considered to achieve the sensitive detection of ctDNA and discuss the clinical applications of ctDNA in the management and treatment of sarcomas.

Keywords: Circulating cell-free DNA; Circulating tumor DNA; GIST; Liquid biopsies; Sarcoma.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Biomarkers, Tumor / blood
  • Biomarkers, Tumor / genetics
  • Bone Neoplasms / genetics*
  • Cell-Free Nucleic Acids / blood*
  • Cell-Free Nucleic Acids / genetics
  • Circulating Tumor DNA / blood*
  • Gastrointestinal Neoplasms / genetics
  • Gastrointestinal Stromal Tumors / genetics
  • Genome-Wide Association Study
  • Humans
  • Liquid Biopsy / methods*
  • Sarcoma / diagnosis
  • Sarcoma / genetics*


  • Biomarkers, Tumor
  • Cell-Free Nucleic Acids
  • Circulating Tumor DNA