术前ctDNA水平与卵巢癌患者较差的总生存率相关

IF 2.6 4区 医学 Q2 GENETICS & HEREDITY
Arturas Dobilas, Yilun Chen, Christian Brueffer, Pia Leandersson, Lao H Saal, Christer Borgfeldt
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引用次数: 0

摘要

背景/目的:循环肿瘤DNA (ctDNA)从癌细胞转移到血液中,为癌症诊断和监测提供了一种潜在的微创方法。本研究旨在评估卵巢肿瘤患者术前血浆中ctDNA水平,并建立其与临床病理参数和患者预后的相关性。患者和方法:从41例卵巢肿瘤组织中提取肿瘤DNA。使用一组127个在癌症中反复突变的基因进行靶向测序,以确定肿瘤DNA中的候选体细胞突变。针对候选突变的SAGAsafe数字PCR (dPCR)检测用于测量手术前获得的患者血浆样本中的ctDNA水平,以突变拷贝数/ml和变异等位基因频率来评估ctDNA水平。结果:24份肿瘤样本中发现体细胞突变,其中17份来自卵巢癌患者。最常见的突变基因是TP53。24例患者中有14例术前检测血浆ctDNA水平。结论:术前卵巢癌患者血浆ctDNA检测可作为预测肿瘤分期和预后的生物标志物。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Preoperative ctDNA Levels Are Associated With Poor Overall Survival in Patients With Ovarian Cancer.

Background/aim: Circulating tumor DNA (ctDNA), which is shed from cancer cells into the bloodstream, offers a potential minimally invasive approach for cancer diagnosis and monitoring. This research aimed to assess the preoperative ctDNA levels in ovarian tumors patients' plasma and establish correlations with clinicopathological parameters and patient prognosis.

Patients and methods: Tumor DNA was extracted from ovarian tumor tissue from 41 patients. Targeted sequencing using a panel of 127 genes recurrently mutated in cancer was performed to identify candidate somatic mutations in the tumor DNA. SAGAsafe digital PCR (dPCR) assays targeting the candidate mutations were used to measure ctDNA levels in patient plasma samples, obtained prior to surgery, to evaluate ctDNA levels in terms of mutant copy number/ml and variant allele frequency.

Results: Somatic mutations were found in 24 tumor samples, 17 of which were from ovarian cancer patients. The most frequently mutated gene was TP53. Preoperative plasma ctDNA levels were detected in 14 of the 24 patients. With higher stage, plasma ctDNA mutant concentration increased (p for trend <0.001). The overall survival of cancer patients with more than 10 ctDNA mutant copies/ml in plasma was significantly worse (p=0.008).

Conclusion: Pre-operative ctDNA measurement in ovarian cancer patients' plasma holds promise as a predictive biomarker for tumor staging and prognosis.

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来源期刊
Cancer Genomics & Proteomics
Cancer Genomics & Proteomics ONCOLOGY-GENETICS & HEREDITY
CiteScore
5.00
自引率
8.00%
发文量
51
期刊介绍: Cancer Genomics & Proteomics (CGP) is an international peer-reviewed journal designed to publish rapidly high quality articles and reviews on the application of genomic and proteomic technology to basic, experimental and clinical cancer research. In this site you may find information concerning the editorial board, editorial policy, issue contents, subscriptions, submission of manuscripts and advertising. The first issue of CGP circulated in January 2004. Cancer Genomics & Proteomics is a journal of the International Institute of Anticancer Research. From January 2013 CGP is converted to an online-only open access journal. Cancer Genomics & Proteomics supports (a) the aims and the research projects of the INTERNATIONAL INSTITUTE OF ANTICANCER RESEARCH and (b) the organization of the INTERNATIONAL CONFERENCES OF ANTICANCER RESEARCH.
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