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转移性结肠癌常规护理中的新一代测序靶向 panel

Next-Generation Sequencing Targeted Panel in Routine Care for Metastatic Colon Cancers.

作者信息

Bayle Arnaud, Basile Debora, Garinet Simon, Rance Bastien, Laurent-Puig Pierre, Blons Hélène, Taieb Julien, Perkins Geraldine

机构信息

Institut du Cancer Paris CARPEM, AP-HP, AP-HP.Centre, Department of Hepatogastroenterology and Digestive Oncology, Hôpital Européen Georges Pompidou, 20 Rue Leblanc, 75015 Paris, France.

Institut du Cancer Paris CARPEM, AP-HP, AP-HP. Centre, Department of Biochemistry, Hôpital Européen Georges Pompidou, 75015 Paris, France.

出版信息

Cancers (Basel). 2021 Nov 17;13(22):5750. doi: 10.3390/cancers13225750.

DOI:10.3390/cancers13225750
PMID:34830904
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC8616114/
Abstract

In digestive oncology, the clinical impact of targeted next-generation sequencing (NGS) in routine practice should be addressed. In this work, we studied the impact of a 22-gene NGS amplicon-based panel with Ion Torrent Proton Sequencing, prospectively performed in routine practice. We analyzed the results of extended molecular testing, beyond and in metastatic colorectal cancer (mCRC) patients in a single-center, retrospective, observational study of consecutive mCRC patients followed up at the Georges Pompidou European Hospital between January 2016 and December 2018. Overall, 210 patients with mCRC were included. Median follow-up was 25.4 months (IQR: 14.9-39.5). The three most frequently mutated genes were: (63%), (41%) and (19%). A positive association was found between overall survival and performance status (PS) ≥ 2 (HR: 4.91 (1.84-13.1); = 0.001) and differentiation (HR: 4.70 (1.51-14.6); = 0.007) in multivariate analysis. The NGS panel enabled five patients to access a targeted therapy not currently registered for CRC. In conclusion, targeted NGS panels in mCRC are feasible in routine practice, but need to be regularly updated and in-depth studies are needed to better analyze the prognostic factors.

摘要

在消化肿瘤学领域,应探讨靶向新一代测序(NGS)在常规临床实践中的影响。在本研究中,我们使用Ion Torrent Proton测序技术,对一个包含22个基因的基于扩增子的NGS检测板进行了研究,该研究在常规临床实践中前瞻性开展。我们在一项单中心、回顾性、观察性研究中,分析了2016年1月至2018年12月期间在乔治·蓬皮杜欧洲医院接受随访的连续性转移性结直肠癌(mCRC)患者的扩展分子检测结果,这些检测超出了常规检测范围。总共纳入了210例mCRC患者。中位随访时间为25.4个月(四分位间距:14.9 - 39.5个月)。三个最常发生突变的基因分别是:(63%)、(41%)和(19%)。在多变量分析中,发现总生存期与体能状态(PS)≥2(风险比:4.91(1.84 - 13.1);P = 0.001)以及肿瘤分化程度(风险比:4.70(1.51 - 14.6);P = 0.007)之间存在正相关。该NGS检测板使5例患者能够接受目前未注册用于CRC的靶向治疗。总之,mCRC中的靶向NGS检测板在常规临床实践中是可行的,但需要定期更新,并且需要进行深入研究以更好地分析预后因素。 (注:原文中部分基因名称未给出具体内容,用括号代替)

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/02e6/8616114/9f398cfa188b/cancers-13-05750-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/02e6/8616114/dcbfe4bf941a/cancers-13-05750-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/02e6/8616114/9f398cfa188b/cancers-13-05750-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/02e6/8616114/dcbfe4bf941a/cancers-13-05750-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/02e6/8616114/9f398cfa188b/cancers-13-05750-g002.jpg

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A next-generation sequencing-based strategy combining microsatellite instability and tumor mutation burden for comprehensive molecular diagnosis of advanced colorectal cancer.一种基于下一代测序的策略,结合微卫星不稳定性和肿瘤突变负担,用于晚期结直肠癌的综合分子诊断。
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KRAS Inhibition with Sotorasib in Advanced Solid Tumors.
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