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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 Treatment Reviews ( IF 9.6 ) Pub Date : 2020-02-14 , DOI: 10.1016/j.ctrv.2020.101987
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 2
Affiliation  

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.

中文翻译:

在非GIST软组织肉瘤的诊断,预后预测和治疗选择中应用分子检测的循证指南。

目的为在患有胃肠道间质瘤的成人组织肉瘤(STS)的成年患者中就诊断,预后和治疗选择的分子检测适应症提供建议。材料和方法本指南由安大略省癌症护理循证护理计划(PEBC)和肉瘤疾病现场小组(DSG)制定。检索了medline,embase和Cochrane图书馆数据库,主要指南网站,相关年会摘要和PROSPERO数据库(2005年1月至2016年10月)。进行了内部和外部审查,并得到了PEBC和Sarcoma DSG的最终批准。结果基于现有证据,我们提出了3项建议,14项建议,9项合格声明,以及7项无建议。这三项强力建议包括:i)建议通过荧光原位杂交(FISH)扩增MDM2,作为区分非典型脂肪瘤/分化良好的脂肪肉瘤,去分化的脂肪肉瘤与脂肪瘤或其他STS的敏感而特异性的检测诊断; ii)建议通过FISH分离SS18(SYT)或通过逆转录聚合酶链反应将SS18-SSX(SYT-SSX)融合,作为区分滑膜肉瘤患者与其他肉瘤的灵敏和特异性检测方法;iii)建议将聚合酶链反应引起的CTNNB1 S45F突变作为患有类胶质瘤患者的无复发生存不良的预后因素。结论本指南可作为在癌症中心和其他辖区周密实施分子研究的框架。将来出现新证据时,可能需要更新某些建议。
更新日期:2020-02-14
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