桑格测序
间变性淋巴瘤激酶
肺癌
DNA测序
表皮生长因子受体
生物
荧光原位杂交
突变
基因突变
基因
个性化医疗
计算生物学
癌症研究
癌症
生物信息学
肿瘤科
遗传学
医学
恶性胸腔积液
染色体
作者
Xiuhuan Ji,Nanying Che,Rixu Lin,Jianou Chen,Ximei Wu
标识
DOI:10.1016/j.prp.2019.02.017
摘要
In the era of personalized medicine, lung cancer is a typical disease which can be treated strategically based on the patient’s histological and molecular diagnosis. Immunohistochemistry (IHC), fluorescence in-situ hybridization (FISH), Sanger sequencing and real-time PCR are techniques commonly used in clinical laboratories. Many patients are required to use several of the above technologies to get a complete diagnosis, which is expensive and timeconsuming. Next generation of sequencing (NGS) has the advantage to simultaneously analyze multigene mutations. The average cost for each patient is affordable if each run contains a certain number of samples. In this study, we tested a 10-gene, 32-mutation detection NGS method, which was used to test 195 samples from non-small cell lung cancer (NSCLC). Sanger sequencing and Amplification-refractory Mutation System (AMRS) PCR were employed to verify Epidermal Growth Factor Receptor (EGFR) and Anaplastic Lymphoma Kinase (ALK) results. This NGS method was partially proved to have a higher sensitivity to detect mutations with low abundance than Sanger sequencing and even ARMS PCR. Using genomic DNA to detect gene fusions may have some disadvantages to miss low abundance or large fragment fusions. As compared to using a few different technologies to analyze multigene mutations, small NGS analysis panel is a clinically applicable, efficient and affordable choice for NSCLC patients.
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