基于RNA-based NGS检测非小细胞肺癌融合基因临床实践中国专家共识

Chinese Expert Consensus on the Clinical Practice of Non-small Cell Lung Cancer Fusion Gene Detection Based on RNA-based NGS

基于RNA水平的二代测序(RNA-based next-generation sequencing, RNA-based NGS)技术已被非小细胞肺癌(non-small cell lung cancer, NSCLC)临床实践指南和专家共识推荐为融合基因的检测方法之一。NSCLC可用药靶点主要包括基因突变和融合,用于评估靶向治疗可行性的基因突变和融合基因检测均不可或缺。目前,基于DNA水平的NGS(DNA-based NGS)结合RNA-based NGS一次性同步检测基因突变和融合的技术已部分应用于临床实践。然而,RNA-based NGS检测融合基因的应用时机、应用场景和质控方面在我国仍缺乏规范和标准。本共识将进一步明确RNA-based NGS在融合基因检测中的应用时机、应用场景和质控,并给予指导性建议,推动RNA-based NGS在NSCLC临床诊疗中的应用,使患者能够最大程度地从融合基因检测中获益。

RNA-based next-generation sequencing(NGS)has been recommended as a method for detecting fu-sion 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.