Park Hyung Seok, Park Seo-Jin, Kim Jee Ye, Kim Sanghwa, Ryu Jaegyu, Sohn Joohyuk, Park Seho, Kim Gun Min, Hwang In Sik, Choi Jong-Rak, Kim Seung Il
Department of Surgery, Yonsei University College of Medicine, Seoul, Korea.
Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
Ann Surg Treat Res. 2017 May;92(5):331-339. doi: 10.4174/astr.2017.92.5.331. Epub 2017 Apr 27.
We evaluated the clinical role of rapid next-generation sequencing (NGS) for identifying mutations compared to traditional Sanger sequencing.
Twenty-four paired samples from 12 patients were analyzed in this prospective study to compare the performance of NGS to the Sanger method. Both NGS and Sanger sequencing were performed in 2 different laboratories using blood samples from patients with breast cancer. We then analyzed the accuracy of NGS in terms of variant calling and determining concordance rates of mutation detection.
The overall concordance rate of mutation identification was 100%. Variants of unknown significance (VUS) were reported in two cases of and 3 cases of after Sanger sequencing, whereas NGS reported only 1 case of VUS, likely due to differences in reference databases used for mutation identification. The median turnaround time of Sanger sequencing was 22 days (range, 14-26 days), while the median time of NGS was only 6 days (range, 3-21 days).
NGS yielded comparably accurate results to Sanger sequencing and in a much shorter time with respect to mutation identification. The shorter turnaround time and higher accuracy of NGS may help clinicians make more timely and informed decisions regarding surgery or neoadjuvant chemotherapy in patients with breast cancer.
我们评估了与传统桑格测序相比，快速下一代测序（NGS）在识别突变方面的临床作用。
在这项前瞻性研究中，分析了来自12名患者的24对样本，以比较NGS与桑格方法的性能。使用乳腺癌患者的血液样本，在2个不同实验室进行了NGS和桑格测序。然后，我们从变异检测和确定突变检测的一致性率方面分析了NGS的准确性。
突变识别的总体一致性率为100%。桑格测序后，有2例报告了意义未明的变异（VUS），3例报告了VUS，而NGS仅报告了1例VUS，这可能是由于用于突变识别的参考数据库不同。桑格测序的中位周转时间为22天（范围为14 - 26天），而NGS的中位时间仅为6天（范围为3 - 21天）。
在突变识别方面，NGS产生的结果与桑格测序相当准确，且时间更短。NGS较短的周转时间和更高的准确性可能有助于临床医生就乳腺癌患者的手术或新辅助化疗做出更及时和明智的决策。
