• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

对新辅助化疗有反应和无反应的食管鳞状细胞癌患者游离DNA的突变谱。

The mutation profiles of cell-free DNA in patients with oesophageal squamous cell carcinoma who were responsive and non-responsive to neoadjuvant chemotherapy.

作者信息

Zhang Ruixiang, Hu Ying, Zhou Tao, Han Wenbo, Liu Yang, Qian Juanjuan, Chen Yanhui, Liu Xianben, Liu Shilei, Yu Yongkui, Zeng Hui, Zhang Henghui, Li Yin

机构信息

Department of Thoracic Surgery, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Department of Thoracic Surgery, The Affiliated Cancer Hospital of Zhengzhou University/Henan Cancer Hospital, Zhengzhou, China.

出版信息

J Thorac Dis. 2020 Aug;12(8):4274-4283. doi: 10.21037/jtd-20-230.

DOI:10.21037/jtd-20-230
PMID:32944339
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7475527/
Abstract

BACKGROUND

The aim of this study was to evaluate the clinical value of plasma cell-free DNA (cfDNA) mutation profiles in patients with oesophageal squamous cell carcinoma (OSCC) who received neoadjuvant chemotherapy.

METHODS

Twenty-two OSCC patients received neoadjuvant chemotherapy and were divided into two groups according to their response to the therapy. Fifteen patients were in the responsive group, and seven patients were in the non-responsive group. The blood samples were collected, and the plasma cfDNA mutation profiles were sequenced by a cancer gene-targeted next-generation sequencing (NGS) panel.

RESULTS

The driver gene molecular mutation burden (MMB) was significantly higher in the non-responsive group compared with the responsive group. Furthermore, we found that the differential MMB included the DNA damage response, Wnt, PI3K, Hippo, RTK/RAS, p53, and AHR pathway. The MMB yielded an area under the receiver operation characteristic (ROC) curve of 0.89 for predicting the response to neoadjuvant chemotherapy. The cfDNA copy number variations (CNVs) yielded an area under ROC curve of 1.0 for predicting the response to neoadjuvant chemotherapy.

CONCLUSIONS

The driver gene MMB and CNVs in plasma cfDNA may be potential biomarkers for predicting the response to neoadjuvant chemotherapy in patients with OSCC.

摘要

背景

本研究旨在评估接受新辅助化疗的食管鳞状细胞癌（OSCC）患者血浆游离DNA（cfDNA）突变谱的临床价值。

方法

22例OSCC患者接受新辅助化疗，并根据治疗反应分为两组。反应组15例患者，无反应组7例患者。采集血样，通过癌症基因靶向二代测序（NGS）面板对血浆cfDNA突变谱进行测序。

结果

与反应组相比，无反应组驱动基因分子突变负担（MMB）显著更高。此外，我们发现差异MMB包括DNA损伤反应、Wnt、PI3K、Hippo、RTK/RAS、p53和AHR通路。MMB在预测新辅助化疗反应方面的受试者操作特征（ROC）曲线下面积为0.89。cfDNA拷贝数变异（CNV）在预测新辅助化疗反应方面的ROC曲线下面积为1.0。

结论

血浆cfDNA中的驱动基因MMB和CNV可能是预测OSCC患者新辅助化疗反应的潜在生物标志物。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7a0/7475527/9e921761dfe3/jtd-12-08-4274-f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7a0/7475527/99a56918a20f/jtd-12-08-4274-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7a0/7475527/537bc67bc313/jtd-12-08-4274-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7a0/7475527/ba47fae1a085/jtd-12-08-4274-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7a0/7475527/0e6e99dfc220/jtd-12-08-4274-f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7a0/7475527/9e921761dfe3/jtd-12-08-4274-f5.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7a0/7475527/99a56918a20f/jtd-12-08-4274-f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7a0/7475527/537bc67bc313/jtd-12-08-4274-f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7a0/7475527/ba47fae1a085/jtd-12-08-4274-f3.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7a0/7475527/0e6e99dfc220/jtd-12-08-4274-f4.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/e7a0/7475527/9e921761dfe3/jtd-12-08-4274-f5.jpg

相似文献

1
The mutation profiles of cell-free DNA in patients with oesophageal squamous cell carcinoma who were responsive and non-responsive to neoadjuvant chemotherapy.对新辅助化疗有反应和无反应的食管鳞状细胞癌患者游离DNA的突变谱。
J Thorac Dis. 2020 Aug;12(8):4274-4283. doi: 10.21037/jtd-20-230.
2
Low-pass Whole-genome Sequencing of Circulating Cell-free DNA Demonstrates Dynamic Changes in Genomic Copy Number in a Squamous Lung Cancer Clinical Cohort.循环游离 DNA 的低深度全基因组测序显示在一个鳞状肺癌临床队列中基因组拷贝数的动态变化。
Clin Cancer Res. 2019 Apr 1;25(7):2254-2263. doi: 10.1158/1078-0432.CCR-18-1593. Epub 2019 Jan 7.
3
Genome-wide and size-based cell-free DNA indices as predictive biomarkers for locally advanced esophageal squamous cell carcinoma treated with preoperative or definitive chemoradiotherapy.全基因组和基于大小的游离DNA指标作为术前或根治性放化疗治疗局部晚期食管鳞状细胞癌的预测生物标志物。
Curr Probl Cancer. 2021 Jun;45(3):100685. doi: 10.1016/j.currproblcancer.2020.100685. Epub 2020 Nov 28.
4
Molecular Alterations in Circulating Cell-Free DNA in Patients with Colorectal Adenoma or Carcinoma.结直肠腺瘤或癌患者循环游离DNA中的分子改变
Cancer Manag Res. 2020 Jun 30;12:5159-5167. doi: 10.2147/CMAR.S244520. eCollection 2020.
5
Targeted sequencing of circulating cell-free DNA in stage II-III resectable oesophageal squamous cell carcinoma patients.Ⅱ-Ⅲ期可切除食管鳞癌患者循环游离 DNA 的靶向测序。
BMC Cancer. 2019 Aug 20;19(1):818. doi: 10.1186/s12885-019-6025-2.
6
Unique genetic profiles from cerebrospinal fluid cell-free DNA in leptomeningeal metastases of EGFR-mutant non-small-cell lung cancer: a new medium of liquid biopsy.脑脊液游离 DNA 中的独特基因突变谱在 EGFR 突变型非小细胞肺癌脑膜转移中的作用：一种新的液体活检方法。
Ann Oncol. 2018 Apr 1;29(4):945-952. doi: 10.1093/annonc/mdy009.
7
Cell-free DNA copy number variations in plasma from colorectal cancer patients.结直肠癌患者血浆中的游离DNA拷贝数变异
Mol Oncol. 2017 Aug;11(8):1099-1111. doi: 10.1002/1878-0261.12077. Epub 2017 Jun 6.
8
Cell-free DNA copy number variations predict efficacy of immune checkpoint inhibitor-based therapy in hepatobiliary cancers.无细胞游离 DNA 拷贝数变异可预测免疫检查点抑制剂治疗在肝胆肿瘤中的疗效。
J Immunother Cancer. 2021 May;9(5). doi: 10.1136/jitc-2020-001942.
9
Somatic mutations in plasma cell-free DNA are diagnostic markers for esophageal squamous cell carcinoma recurrence.浆细胞游离DNA中的体细胞突变是食管鳞状细胞癌复发的诊断标志物。
Oncotarget. 2016 Sep 20;7(38):62280-62291. doi: 10.18632/oncotarget.11409.
10
Increased Plasma Circulating Cell-Free DNA Could Be a Potential Marker for Oral Cancer.血浆游离循环 DNA 升高可能成为口腔癌的一个潜在标志物。
Int J Mol Sci. 2018 Oct 24;19(11):3303. doi: 10.3390/ijms19113303.

引用本文的文献

1
An update of clinical value of circulating tumor DNA in esophageal cancer: a systematic review and meta-analysis.循环肿瘤 DNA 在食管癌中的临床价值更新：系统评价和荟萃分析。
BMC Cancer. 2024 Jan 24;24(1):129. doi: 10.1186/s12885-024-11879-6.
2
Exploiting the Molecular Basis of Oesophageal Cancer for Targeted Therapies and Biomarkers for Drug Response: Guiding Clinical Decision-Making.利用食管癌的分子基础进行靶向治疗及药物反应生物标志物研究：指导临床决策
Biomedicines. 2022 Sep 22;10(10):2359. doi: 10.3390/biomedicines10102359.
3
Molecular Alterations of Circulating Cell-Free DNA in the Pathological Progression of Hepatocellular Carcinoma.

本文引用的文献

1
The frontline of esophageal cancer treatment: questions to be asked and answered.食管癌治疗的前沿：有待提出并解答的问题
Ann Transl Med. 2018 Feb;6(4):83. doi: 10.21037/atm.2017.10.31.
2
Circulating tumour DNA methylation markers for diagnosis and prognosis of hepatocellular carcinoma.循环肿瘤 DNA 甲基化标志物用于肝细胞癌的诊断和预后。
Nat Mater. 2017 Nov;16(11):1155-1161. doi: 10.1038/nmat4997. Epub 2017 Oct 9.
3
Circulating Cell-Free DNA Levels Could Predict Oncological Outcomes of Patients Undergoing Esophagectomy for Esophageal Squamous Cell Carcinoma.
循环游离DNA在肝细胞癌病理进展中的分子改变
J Oncol. 2021 Dec 3;2021:3637436. doi: 10.1155/2021/3637436. eCollection 2021.
4
Plasma Circulating Tumor DNA Sequencing Predicts Minimal Residual Disease in Resectable Esophageal Squamous Cell Carcinoma.血浆循环肿瘤DNA测序可预测可切除食管鳞状细胞癌的微小残留病。
Front Oncol. 2021 May 20;11:616209. doi: 10.3389/fonc.2021.616209. eCollection 2021.
循环游离DNA水平可预测接受食管鳞状细胞癌食管切除术患者的肿瘤学结局。
Int J Mol Sci. 2016 Dec 17;17(12):2131. doi: 10.3390/ijms17122131.
4
Cancer statistics in China, 2015.《中国癌症统计数据 2015》
CA Cancer J Clin. 2016 Mar-Apr;66(2):115-32. doi: 10.3322/caac.21338. Epub 2016 Jan 25.
5
MiRNA Expression Analysis of Pretreatment Biopsies Predicts the Pathological Response of Esophageal Squamous Cell Carcinomas to Neoadjuvant Chemoradiotherapy.治疗前活检组织的miRNA表达分析可预测食管鳞状细胞癌对新辅助放化疗的病理反应。
Ann Surg. 2016 May;263(5):942-8. doi: 10.1097/SLA.0000000000001489.
6
Clonal evolution and resistance to EGFR blockade in the blood of colorectal cancer patients.结直肠癌患者血液中的克隆进化及对表皮生长因子受体阻断的耐药性
Nat Med. 2015 Jul;21(7):795-801. doi: 10.1038/nm.3870. Epub 2015 Jun 1.
7
Circulating mRNA Profiling in Esophageal Squamous Cell Carcinoma Identifies FAM84B As A Biomarker In Predicting Pathological Response to Neoadjuvant Chemoradiation.食管鳞状细胞癌循环mRNA谱分析确定FAM84B作为预测新辅助放化疗病理反应的生物标志物。
Sci Rep. 2015 May 18;5:10291. doi: 10.1038/srep10291.
8
An ultrasensitive method for quantitating circulating tumor DNA with broad patient coverage.一种用于定量循环肿瘤DNA的超灵敏方法，具有广泛的患者覆盖范围。
Nat Med. 2014 May;20(5):548-54. doi: 10.1038/nm.3519. Epub 2014 Apr 6.
9
Effects of a novel cell stabilizing reagent on DNA amplification by PCR as compared to traditional stabilizing reagents.与传统稳定剂相比，一种新型细胞稳定剂对PCR扩增DNA的影响。
Acta Histochem. 2014 Jan;116(1):55-60. doi: 10.1016/j.acthis.2013.05.002. Epub 2013 Jun 28.
10
A stabilizing reagent prevents cell-free DNA contamination by cellular DNA in plasma during blood sample storage and shipping as determined by digital PCR.稳定剂可通过数字 PCR 防止血液样本储存和运输过程中血浆中细胞游离 DNA 对细胞 DNA 的污染。
Clin Biochem. 2013 Oct;46(15):1561-5. doi: 10.1016/j.clinbiochem.2013.06.002. Epub 2013 Jun 13.