The genomics of undifferentiated sarcoma of soft tissue: Progress, challenges and opportunities

Semin Cancer Biol. 2020 Apr:61:42-55. doi: 10.1016/j.semcancer.2019.11.009. Epub 2019 Dec 19.

Abstract

Undifferentiated sarcoma of soft tissue (USTS) are aggressive sarcomas that remain a diagnosis of exclusion and show extreme genomic complexity. Many advances in diagnostic criteria have resulted in several revisions in the definition of this rare cancer type. Recent sequencing efforts have illuminated the nature of the genome complexity and have revealed extensive copy number heterogeneity and multiple evolutionary patterns of development. This review places these recent advances into their historical and translational context and covers the changes in nomenclature, molecular classification, and the promise of personalised medicine.

Keywords: Cancer; Copy number signatures; Evolution; Genomics; Sarcoma.

Publication types

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

MeSH terms

  • Biomarkers, Tumor
  • Biopsy
  • DNA Copy Number Variations
  • Evolution, Molecular
  • Genetic Predisposition to Disease*
  • Genomics* / methods
  • Humans
  • Immunohistochemistry
  • Neoplasm Grading
  • Neoplasm Staging
  • Sarcoma / genetics*
  • Sarcoma / metabolism
  • Sarcoma / pathology*
  • Sarcoma / surgery
  • Signal Transduction
  • Translational Research, Biomedical

Substances

  • Biomarkers, Tumor