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The Desmoid Tumor Research Foundation

February 2020

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

Author Information

Yao X(1), Ghert M(2), Dickson BC(3), Popovic S(4), Purgina BM(5), Verma S(6), Werier J(7), Kandel RA(2)

(1)Program in Evidence-Based Care, Cancer Care Ontario, Department of Oncology, McMaster University, Hamilton, Ontario, Canada. (2)Department of Pathology and Laboratory Medicine, Mount Sinai Hospital,Toronto, Ontario, Canada.(3)Division of Orthopedic Surgery, Juravinski Cancer Centre, McMaster University, Hamilton, Ontario, Canada. (4)Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario. (5)Department of Pathology and Laboratory Medicine, The Ottawa Hospital Cancer Centre, Ottawa, Ontario, Canada. (6)Division of Medical Oncology, The Ottawa Hospital Cancer Centre, Ottawa, Ontario, Canada. (7)Division of Orthopedic Surgery, The Ottawa Hospital Cancer Centre, Ottawa, Ontario, Canada.

Publication

Cancer Treat Rev

Summary

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). Based on the available evidence, we made three Strong 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.This guideline may serve as a framework for the thoughtful implementation of molecular studies at cancer centres and other jurisdictions.

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