Zhongguo Fei Ai Za Zhi. 2023 Nov 20;26(11):801-812. doi: 10.3779/j.issn.1009-3419.2023.102.43. Epub 2023 Nov 21.
RNA-based next-generation sequencing (NGS) has been recommended as a method for detecting fusion genes in non-small cell lung cancer (NSCLC) according to clinical practice guidelines and expert consensus. The primary targetable alterations in NSCLC consist of gene mutations and fusions, making the detection of gene mutations and fusions indispensable for assessing the feasibility of targeted therapies. Currently, the integration of DNA-based NGS and RNA-based NGS allows for simultaneous detection of gene mutations and fusions and has been partially implemented in clinical practice. However, standardized guidelines and criteria for the significance, application scenarios, and quality control of RNA-based NGS in fusion gene detection are still lacking in China. This consensus aims to provide further clarity on the practical significance, application scenarios, and quality control measures of RNA-based NGS in fusion gene detection. Additionally, it offers guiding recommendations to facilitate the clinical implementation of RNA-based NGS in the diagnosis and treatment of NSCLC, ultimately maximizing the benefits for patients from fusion gene detection. .
根据临床实践指南和专家共识,基于RNA的下一代测序(NGS)已被推荐作为检测非小细胞肺癌(NSCLC)融合基因的一种方法。NSCLC中主要的可靶向改变包括基因突变和融合,这使得检测基因突变和融合对于评估靶向治疗的可行性不可或缺。目前,基于DNA的NGS和基于RNA的NGS相结合可同时检测基因突变和融合,并且已在临床实践中部分实施。然而,我国在基于RNA的NGS用于融合基因检测的意义、应用场景和质量控制方面仍缺乏标准化的指南和标准。本共识旨在进一步明确基于RNA的NGS在融合基因检测中的实际意义、应用场景和质量控制措施。此外,它还提供指导性建议,以促进基于RNA的NGS在NSCLC诊断和治疗中的临床应用,最终使患者从融合基因检测中获得最大益处。