An evidence-based guideline on the application of molecular testing in the diagnosis, prediction of prognosis, and selection of therapy in non-GIST soft tissue sarcomas

Cancer Treat Rev. 2020 Apr;85:101987. doi: 10.1016/j.ctrv.2020.101987. Epub 2020 Feb 14.


Aims: To make recommendations on the indications for molecular testing regarding the diagnosis, prediction of prognosis, and treatment selection in adult patients with s oft tissue sarcomas (STS) excluding gastrointestinal stromal tumour.

Materials and methods: This guideline was developed by the Cancer Care Ontario's Program in Evidence-Based Care (PEBC) and the Sarcoma Disease Site Group (DSG). The medline, embase, and Cochrane Library databases, main guideline websites, abstracts of relevant annual meetings, and PROSPERO databases were searched (January 2005 to October 2016). Internal and external reviews were conducted, with final approval by the PEBC and the Sarcoma DSG.

Results: Based on the available evidence, we made three S trong Recommendations, 14 Recommendations, 9 Qualified Statements, and seven No Recommendations. The three Strong Recommendations include: i) MDM2 amplification by fluorescence in situ hybridization (FISH) is recommended as a sensitive and specific test to differentiate patients with atypical lipomatous tumour/well-differentiated liposarcoma, or dedifferentiated liposarcoma from lipoma or other STS in the differential diagnosis; ii) SS18 (SYT) break-apart by FISH or SS18-SSX (SYT-SSX) fusion by reverse transcription-polymerase chain reaction is recommended as a sensitive and specific test to differentiate patients with synovial sarcoma from other sarcomas; iii) CTNNB1 S45F mutation by polymerase chain reaction is recommended as a prognostic factor for poor recurrence-free survival in patients with desmoid tumours.

Conclusion: This guideline may serve as a framework for the thoughtful implementation of molecular studies at cancer centres and other jurisdictions. Some of the recommendations may need to be updated when new evidence appears in the future.

Keywords: Clinical practice guideline,; Diagnosis; Prognosis; Soft tissue sarcoma; Treatment selection.

Publication types

  • Meta-Analysis
  • Systematic Review

MeSH terms

  • Biomarkers, Tumor / genetics*
  • Evidence-Based Medicine
  • Female
  • Gastrointestinal Stromal Tumors / diagnosis
  • Gastrointestinal Stromal Tumors / genetics
  • Genetic Testing
  • Humans
  • Male
  • Oncogene Proteins, Fusion / genetics*
  • Ontario
  • Practice Guidelines as Topic*
  • Prognosis
  • Sarcoma / diagnosis
  • Sarcoma / genetics*
  • Sarcoma / therapy
  • Sensitivity and Specificity
  • Soft Tissue Neoplasms / diagnosis
  • Soft Tissue Neoplasms / genetics*
  • Soft Tissue Neoplasms / therapy


  • Biomarkers, Tumor
  • Oncogene Proteins, Fusion