Division of Medical Oncology and Hematology, Cantonal Hospital St. Gallen, St. Gallen, Switzerland; Inselspital Berne, University of Berne, Bern, Switzerland.
Institute of Pathology, Cantonal Hospital St. Gallen, St. Gallen, Switzerland.
ESMO Open. 2022 Oct;7(5):100570. doi: 10.1016/j.esmoop.2022.100570. Epub 2022 Sep 29.
Next-generation sequencing (NGS) of tumor cell-derived DNA/RNA to screen for targetable genomic alterations is now widely available and has become part of routine practice in oncology. NGS testing strategies depend on cancer type, disease stage and the impact of results on treatment selection. The European Society for Medical Oncology (ESMO) has recently published recommendations for the use of NGS in patients with advanced cancer. We complement the ESMO recommendations with a practical review of how oncologists should read and interpret NGS reports. A concise and straightforward NGS report contains details of the tumor sample, the technology used and highlights not only the most important and potentially actionable results, but also other pathogenic alterations detected. Variants of unknown significance should also be listed. Interpretation of NGS reports should be a joint effort between molecular pathologists, tumor biologists and clinicians. Rather than relying and acting on the information provided by the NGS report, oncologists need to obtain a basic level of understanding to read and interpret NGS results. Comprehensive annotated databases are available for clinicians to review the information detailed in the NGS report. Molecular tumor boards do not only stimulate debate and exchange, but may also help to interpret challenging reports and to ensure continuing medical education.
肿瘤细胞衍生 DNA/RNA 的下一代测序 (NGS) 用于筛选可靶向的基因组改变，现已广泛应用，并已成为肿瘤学常规实践的一部分。NGS 测试策略取决于癌症类型、疾病阶段以及结果对治疗选择的影响。欧洲肿瘤内科学会 (ESMO) 最近发布了关于在晚期癌症患者中使用 NGS 的建议。我们对如何阅读和解释 NGS 报告进行了实用的回顾，补充了 ESMO 的建议。一份简明扼要的 NGS 报告包含肿瘤样本的详细信息、使用的技术，并突出显示不仅最重要且可能具有治疗意义的结果，还包括其他检测到的致病性改变。未知意义的变异也应列出。NGS 报告的解释应该是分子病理学家、肿瘤生物学家和临床医生共同努力的结果。临床医生不应仅仅依赖和根据 NGS 报告提供的信息做出决策，还需要获得一定的理解水平，以便阅读和解释 NGS 结果。临床医生可以使用综合注释数据库来审查 NGS 报告中详细的信息。分子肿瘤委员会不仅可以促进辩论和交流，还可以帮助解释具有挑战性的报告，并确保继续教育。
