上海地区BRAF基因突变检测室间质量评价

External quality assessment of BRAF mutation detection in Shanghai area

目的通过开展B-rapidly accelerated fibrosarcoma(BRAF)基因突变检测项目室间质量评价(external quality assessment,EQA),分析和探讨临床实验室存在的问题,并提出改进措施。方法上海市临床检验中心(以下简称"中心")2017年发送两次EQA样品盘至45家实验室,每次均包含5份样本,要求各参评实验室在1周内将检测结果上传至中心数据库。然后,中心依据回报结果汇总各实验室EQA成绩,并计算每份检测样本的符合率。结果 2017年两次BRAF基因突变检测EQA活动分别收到42和41家实验室的有效回报结果,两次10份样本检测总符合率为76.2%~100%,其中:野生型、p.V600K、p.V600R和p.V600E样本符合率分别为99.2%(123/124份),79.8%(67/84份),87.8%(36/41份)和95.2%(119/125份)。分别有73.8%(31/42家)和75.6%(31/41家)的实验室检测结果完全正确;其中:使用注册试剂检测结果完全正确的实验室分别为79.8%(27/34家)和81.3%(26/32家),使用实验室自建方法(laboratory-developed tests,LDTs)结果完全正确的实验室分别为50%(4/8家)和55.6%(5/9家)。结论上海市临床实验室BRAF基因突变检测项目EQA总符合率较高,商品化试剂检测结果符合率高于LDTs;部分实验室检测能力有待提高,应加强BRAF基因突变检测项目质量控制,以确保检测结果的准确性。

Objective To evaluate the performance of B-rapidly accelerated fibrosarcoma（BRAF） gene mutation detection in 2017 external assessment（EQA） program, analyze the existing problems in clinical laboratories and put forward the suggestions for improvement measures. Methods The Shanghai clinical laboratory center（hereinafter referred to as the ″center″） sent two EQA sample plates to 45 laboratories in 2017 for BRAF detetection, each containing 5 samples. Forty-five participating laboratories were asked to upload the results to the center database within one week. Then according to the return results, the center summarized the EQA scores of each laboratory, and calculated the coincidence rate of each sample. Results The two BRAF mutation detection EQA activities received 42 and 41 laboratories valid returns respectively. The coincidence rates of each sample in the two EQA activities were from 76.2% to 100%, and the overall coincidence rates of wild type samples, p.V600 K samples, p.V600 R samples and p.V600 E samples were 99.2%（123/124）, 79.8%（67/84）, 87.8%（36/41） and 95.2%（119/125）, respectively. 73.8%（31/42） and 75.6%（31/41） of the laboratories submitted correct results for all samples. Among them, 79.8%（27/34） and 81.3%（26/32） of the laboratories obtained completely correct results using the registered reagent, while only 50%（4/8） and 55.6%（5/9） laboratories obtained completely correct results using lab-developed tests（LDTs）. Conclusions The total coincidence rate of the BRAF gene mutation detection in the clinical laboratories of Shanghai is relative high in the 2017 EQA programs, and the coincidence rates of the test results are higher in laboratories using registered reagents than in the laboratories using LDTs. The testing ability of some laboratories should be improved, and the quality control of the BRAF mutation detection should be strengthened so as to ensure the accuracy of the test results.