上海地区NRAS基因突变检测室间质量评价分析

External quality assessment for NRAS gene mutation testing in Shanghai

目的通过开展神经母细胞瘤病毒癌基因RAS同源物(NRAS)基因突变检测室间质量评价(EQA)项目,评估上海地区实验室的检测能力及存在问题。方法选取含有特定NRAS基因突变位点的经甲醛溶液固定、石蜡包埋的细胞作为EQA标本,对其均匀性和稳定性进行评价。分别于2019年和2020年将标本随机编号后发至参评实验室,要求实验室在规定时间内检测并回报结果,上海市临床检验中心对结果进行评价分析。结果标本均匀性和稳定性均符合要求,2019年和2020年分别收到26份和24份有效回报结果,结果总体合格的实验室分别占84.62%、95.83%,结果完全正确的实验室分别占80.77%、79.17%;标本的整体符合率分别为93.08%、93.33%;在错误结果类型中,假阳性率分别为33.33%、25.00%,假阴性率分别为66.67%、75.00%。结论上海地区实验室NRAS基因突变检测能力整体较好,2020年实验室的检测能力较2019年有所提升;假阴性是主要错误类型,部分实验室检测能力尚有待提高;实验室通过参加EQA等方式加强实验室质量管理,可及时发现问题并持续改进以提高其检测能力。

Objective To evaluate the detection capacity and existing problems of laboratories in Shanghai by carrying out the external quality assessment(EQA)project for neuroblastoma RAS viral oncogene homolog(NRAS)gene mutation detection.Methods Formaldehyde solution-fixed and paraffin-embedded cells containing specific NRAS gene mutation sites were selected as EQA specimens,and their homogeneity and stability were evaluated.The specimens were randomly numbered and sent to the participating laboratories in 2019 and 2020,respectively,and the laboratories were required to test and report the results within the specified time.The Shanghai Center for Clinical Laboratory evaluated and analyzed the results.Results The uniformity and stability of the specimens met the requirements.In 2019 and 2020,26 and 24 valid return results were received,respectively.The overall qualified laboratories accounted for 84.62%,95.83%,respectively.The laboratories with completely correct results accounted for 80.77%,79.17%respectively.The overall coincidence rates of the specimens were 93.08%,93.33%,respectively;among the types of false results,false positives accounted for 33.33%,25.00%,and false negatives accounted for 66.67%,75.00%,respectively.Conclusion The overall NRAS gene mutation detection capabilities of laboratories in Shanghai is relatively good,the detection capabilities of laboratories in 2020 was improved compared to 2019,the false negative was the main type of error,which indicates that the detection capabilities of some laboratories need to be improved.The laboratory strengthens the quality management of the laboratory by participating in EQA,etc.,so that problems can be discovered in time and continuous improvement to improve its testing capabilities.