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下一代测序与聚合酶链反应在转移性结直肠癌患者个性化治疗相关基因组状态评估中的比较

Comparison of Next-Generation Sequencing and Polymerase Chain Reaction for Personalized Treatment-Related Genomic Status in Patients with Metastatic Colorectal Cancer.

作者信息

Su Wei-Chih, Tsai Yi-Chen, Tsai Hsiang-Lin, Chang Tsung-Kun, Yin Tzu-Chieh, Huang Ching-Wen, Chen Yen-Cheng, Li Ching-Chun, Chen Po-Jung, Liu Yun-Ru, Hsieh Tsung-Han, Wang Jaw-Yuan

机构信息

Division of Colorectal Surgery, Department of Surgery, Kaohsiung Medical University Hospital, Kaohsiung Medical University, Kaohsiung 80756, Taiwan.

Graduate Institute of Clinical Medicine, College of Medicine, Kaohsiung Medical University, Kaohsiung 80756, Taiwan.

出版信息

Curr Issues Mol Biol. 2022 Apr 5;44(4):1552-1563. doi: 10.3390/cimb44040106.

Abstract

Personalized treatments based on the genetic profiles of tumors can simultaneously optimize efficacy and minimize toxicity, which is beneficial for improving patient outcomes. This study aimed to integrate gene alterations associated with predictive and prognostic outcomes in patients with metastatic colorectal cancer (mCRC) with polymerase chain reaction (PCR) and in-house next-generation sequencing (NGS) to detect , , and mutations. In the present study, 41 patients with mCRC were assessed between August 2017 and June 2019 at a single institution. The overall concordance between NGS and PCR results for detecting , and mutations was considerably high (87.8-92.7%), with only 15 discrepant results between PCR and NGS. Our companion diagnostic test analyzes , and as a panel of CRC molecular targets; therefore, it has the advantages of requiring fewer specimens and being more time and cost efficient than conventional testing for separate analyses, allowing for the simultaneous analysis of multiple genes.

摘要

基于肿瘤基因图谱的个性化治疗可以同时优化疗效并将毒性降至最低,这有利于改善患者预后。本研究旨在将与转移性结直肠癌(mCRC)患者的预测和预后结果相关的基因改变与聚合酶链反应(PCR)及内部下一代测序(NGS)相结合,以检测 、 和 突变。在本研究中,2017年8月至2019年6月期间在一家机构对41例mCRC患者进行了评估。检测 、 和 突变时,NGS与PCR结果之间的总体一致性相当高(87.8 - 92.7%),PCR与NGS之间只有15个结果不一致。我们的伴随诊断测试将 、 和 作为一组CRC分子靶点进行分析;因此,它具有所需样本较少的优点,并且比单独分析的传统检测更节省时间和成本,能够同时对多个基因进行分析。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/23a6/9164059/9b4fb25143ba/cimb-44-00106-g001.jpg

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