Liquid Biopsy: A New Translational Diagnostic and Monitoring Tool for Musculoskeletal Tumors

Int J Mol Sci. 2021 Oct 26;22(21):11526. doi: 10.3390/ijms222111526.

Abstract

Soft tissue and bone sarcomas represent a group of aggressive neoplasms often accompanied by dismal patient prognosis, especially when distant metastases are present. Moreover, effective treatment can pose a challenge, as recurrences are frequent and almost half of patients present with advanced disease. Researchers have unveiled the molecular abnormalities implicated in sarcomas' carcinogenesis, paving the way for novel treatment strategies based on each individual tumor's characteristics. Therefore, the development of new techniques aiding in early disease detection and tumor molecular profiling is imperative. Liquid biopsy refers to the sampling and analysis of patients' fluids, such as blood, to identify tumor biomarkers, through a variety of methods, including qRT-PCR, qPCR, droplet digital PCR, magnetic microbeads and digital PCR. Assessment of circulating tumor cells (CTCs), circulating free DNA (ctDNA), micro RNAs (miRs), long non-coding RNAs (lncRNAs), exosomes and exosome-associated proteins can yield a plethora of information on tumor molecular signature, histologic type and disease stage. In addition, the minimal invasiveness of the procedure renders possible its wide application in the clinical setting, and, therefore, the early detection of the presence of tumors. In this review of the literature, we gathered information on biomarkers assessed through liquid biopsy in soft tissue and bone sarcoma patients and we present the information they can yield for each individual tumor type.

Keywords: biomarkers; bone sarcomas; cancer; diagnosis; liquid biopsy; prognosis; soft tissue sarcomas; treatment.

Publication types

  • Review

MeSH terms

  • Biomarkers, Tumor / blood
  • Bone Neoplasms / blood
  • Bone Neoplasms / diagnosis*
  • Circulating Tumor DNA / blood
  • Exosomes / pathology
  • Humans
  • Liquid Biopsy / methods*
  • Liquid Biopsy / trends
  • MicroRNAs / blood
  • Neoplastic Cells, Circulating / pathology
  • Precision Medicine
  • Sarcoma / blood
  • Sarcoma / diagnosis*
  • Soft Tissue Neoplasms / blood
  • Soft Tissue Neoplasms / diagnosis*
  • Translational Research, Biomedical

Substances

  • Biomarkers, Tumor
  • Circulating Tumor DNA
  • MicroRNAs