人类表皮生长因子受体2（human epidermalgrowth factor receptor-2, HER2）是人类表皮生长因子受体家族之一，HER2基因扩增在乳腺癌患者中非常常见，通过荧光原位杂交方法（fluorescence in situ hybridization, FISH）准确和可靠地检测HER2基因扩增是应用靶向化疗药物曲妥单抗的关键。为了评估和提高全国医院实验室检测HER2基因扩增的能力，2014年卫生部临床检验中心（national center for clinical laboratories, NCCL）通过使用相关乳腺癌细胞系制备甲醛固定石蜡包埋的质控品样本组织了一次室间质量评价（external quality assurance, EQA）工作。在本研究中，我们选取了携带不同HER2基因扩增状态的乳腺癌细胞系，在验证了HER2基因状态后，我们通过甲醛固定石蜡包埋（formalin-fixed paraffin-embedded, FFPE）制备了细胞系的质控品，在对样本的结果和性能进行验证后，我们建立了一组包括5个样本的样本盘，随后将样本发放给全国参加本次质评的医院实验室，并对回报的结果进行评估，统计全国参评实验室的检测能力以及探究可能影响检测能力的因素。在本次质评中，我们共收到了67家，其中94.03% 的实验室取得了合格的室间质评成绩，56.72% 的实验室能够完全检测所有的样本。在研究中，我们发现试剂是影响实验室检测能力的一个重要影响因素。通过我们的室间质评，我们发现保证HER2基因扩增FISH检测的关键就是严格按照试剂盒的操作程序进行实验操作。同时我们的室间质评对于评估和提高参与者的检测能力以及发现在日常工作中存在的问题都有很大帮助。

在个体化医疗的临床分子诊断中，除了乳腺癌的HER2扩增基因，非小细胞肺癌（non-small cell lung cancer, NSCLC）的EML4-ALK融合基因也是个体化药物ALK激酶抑制剂的一个分子靶标。当前，对于这种融合基因的检测最常用的有三种方法：荧光原位杂交、免疫组织化学（immunohistochemistry, IHC）和反转录实时荧光定量PCR（real-time fluorescent quatitative reverse transcription polymerase chain reaction, RT-qPCR）方法，同时，新一代高通量测序（next-generation sequencing, NGS）方法的发展也为更精确地检测EML4-ALK提供了便利。在第二部分，为了评估不同临床实验室检测EML4-ALK融合基因的能力，2015年卫生部临床检验中心开展了室间质量评价。在本次室间质量评价中，我们选用两种携带不同EML4-ALK融合基因变体和不含有EML4-ALK融合基因的非小细胞肺癌细胞系，通过形成异种移植的肿瘤组织，得到甲醛固定石蜡包埋的样本。我们对我们制备的质控品结果和性能进行了验证，并建立了包括5个样本的样本盘，随后将样本发放给全国参加本次质评的临床实验室，并对回报的结果进行评估，统计全国参评实验室的检测能力以及探究可能影响检测能力的因素。在本次质评中，我们共收到了94家实验室的结果，其中75.53% 的参与者回报样本盘中所有样本完全正确的结果。根据实验室回报的方法学结果，82.86% 使用RT-qPCR方法的实验室、76.67% 使用FISH方法的实验室、77.78% 使用NGS方法的实验室和66.67% 使用IHC方法的实验室能够完全正确地检测所有的样本。在本研究中，我们使用异种移植肿瘤组织作为质控样本进行室间质量评价，揭示了不同的影响实验室性能的因素并帮助保证中国临床实验室检测EML4-ALK融合基因的可靠性。

As one of human ERBB family, HER2 gene amplification occur frequently in most breast cancer patients. Accurate and reliable detection of HER2 gene amplification by fluorescence in situ hybridization (FISH) is the premise behind targeted therapy utilizing trastuzumab. In order to understand the performance of this assay in China, national center for clinical laboratories (NCCL) used formalin-fixed paraffin-embedded (FFPE) samples made of breast cancer cell lines to organize an external quality assurance (EQA) in China in 2014. In our study, we chose three cell lines which have different HER2 gene amplification status. After validation of results and characteristic, we established a panel of five samples including highly positive, weekly positive and negative samples. The panels were sent to laboratories in China and we assessed the results from the participants. We evaluated the performance of these participants and the factors which might affect the performance. In this study, 67 laboratories returned the results. 94.03% laboratories had eligible EQA scores and 56.72% could detect completely correctly. We found the reagent was an important factor and other factors include operation, environment and staff. Except for reagents, participants should take notice of their operations. Our EQA process is necessary to help participants understand their performances and problems during routine work.

Except for HER2 gene amplification in breast cancer, EML4-ALK rearrangement in non-small cell lung cancer (NSCLC) was significant in molecular targeted therapy by ALK kinase inhibitors. Currently, several approaches have been used to detect this fusion gene, including FISH, immunohistochemistry (IHC) and real-time fluorescent quatitative reverse transcription polymerase chain reaction (RT-qPCR). Moreover, next-generation sequencing (NGS) can also be applied for detection of EML4-ALK rearrangement. However, the performance of laboratories in China was unknown. In this study, NCCL organized an EQA to evaluate the performance of different laboratories. In this EQA, we prepared FFPE samples derived from the xenograft tumor tissue of two NSCLC cell lines with different EML4-ALK rearrangement variants and one NSCLC cell line without EML4-ALK rearrangement. Once validation, we established a panel of five samples, including three samples with two different variants and two samples without EML4-ALK rearrangement, which was subsequently sent to laboraotires throughout China. We evaluated the performance and the factors influencing the detection by results returned by these laboratories. In our study, we received results from 94 laboratories. 75.53% participants correctly identified all of the panel. According to the methodology applied, 82.86%, 76.67%, 77.78%, and 66.67% of laboratories using RT-qPCR, FISH, NGS, and IHC, respectively could analyze all the samples correctly. In this study, our EQA with xenograft tumor samples as quality controls revealed different factors which might affect the performance of laboratories and helped laboratories to assure reliable detection of EML4-ALK rearrangement detection.