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

Xiaomei Yao 1, Michelle Ghert 2, Brendan C Dickson 3, Snezana Popovic 4, Bibianna M Purgina 5, Shailendra Verma 6, Joel Werier 7, Rita A Kandel 8

Affiliations

PMID: 32092619
DOI: 10.1016/j.ctrv.2020.101987

Abstract

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.

Conflict of interest statement

Declaration of Competing Interest BCD has received molecular test kits (free of charge) from Illumina, and MG has declared that she received more than $5,000 in 2017 to act in a consulting capacity from Wright Medical and Kuros Biosciences. The other authors have declared no conflicts of interest.