靶向测序法鉴定癌症中基于液体生物系统的突变

IF 2.3 3区 生物学 Q3 BIOCHEMICAL RESEARCH METHODS
István Szász , Tímea Kiss , Attila Mokánszki , Viktória Koroknai , János Deák , Vikas Patel , Krisztina Jámbor , Róza Ádány , Margit Balázs
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引用次数: 2

摘要

最近,液体活检作为一种很有前途的方法被引入分析不同的肿瘤来源的循环标记物,包括肿瘤DNA和无细胞DNA(ct/cfDNA)。cfDNA突变的鉴定可以早期检测肿瘤,并以微创的方式预测和监测治疗反应。在本研究中,我们使用商业上可获得的基因面板来验证液体活检和结直肠肿瘤组织中检测到的异常之间的突变重叠。这两个面板(Archer®VariantPlex®Solid Tumor和LIQUIDPlexTM ctDNA)在23个基因中重叠,这使得能够通过下一代测序全面了解肿瘤血浆突变状态。我们成功分析了16个血浆和16个肿瘤样本。我们发现87%的肿瘤组织含有12个基因的44个突变,43.8%的cfDNA含有5个基因的13个突变。为了验证肿瘤DNA的突变模式是否可以在血浆cfDNA中一致检测到,我们比较了9名患者的cfDNA和匹配组织DNA之间的变化。9个肿瘤组织中有6个含有TP53、KRAS或MET基因突变,即使这些基因的外显子在两个面板中重叠,ctDNA试剂盒也无法检测到这些突变。比较匹配样本的突变模式,我们发现在配对组织中只有一个cfDNA具有相同的突变(KRAS、SMAD4和TP53)。肿瘤组织DNA和匹配的血浆cfDNA之间的比较结果强调了一起研究配对的实体瘤和血浆样品的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Identification of liquid biopsy-based mutations in colorectal cancer by targeted sequencing assays

Recently, liquid biopsy, as a promising approach was introduced for the analysis of different tumor-derived circulating markers including tumor DNA and cell free DNA (ct/cfDNA). Identification of mutations in cfDNA may allow the early detection of tumors, as well as predicting and monitoring treatment responses in a minimally invasive way. In the present study, we used commercially available gene panels to verify the mutation overlap between liquid biopsy and abnormalities detected in colorectal tumor tissue. The two panels (Archer®VariantPlex®Solid Tumor and LIQUIDPlexTM ctDNA) overlap in 23 genes, which enables a comprehensive view of tumor-plasma mutational status by next generation sequencing. We successfully analyzed 16 plasma and 16 tumor samples. We found that 87% of tumor tissues contained 44 mutations in 12 genes and 43.8% of cfDNA harbored 13 mutations in 5 genes. To verify whether the mutation pattern of the tumor DNA could be consistently detected in plasma cfDNA, we compared the alterations between cfDNA and matched tissue DNA in nine patients. Six of the 9 tumor tissues harbored mutations in TP53, KRAS or MET genes, those were not detectable by the ctDNA kit, even eventhough the exons of these genes overlap in both panels. Comparing the mutational patterns of the matched samples, we found that only one cfDNA had the same mutations (KRAS, SMAD4 and TP53) in the paired tissue. The results of the comparison between tumor tissue DNA and matched plasma cfDNA underline the importance of studying the paired solid tumor and plasma samples together.

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来源期刊
Molecular and Cellular Probes
Molecular and Cellular Probes 生物-生化研究方法
CiteScore
6.80
自引率
0.00%
发文量
52
审稿时长
16 days
期刊介绍: MCP - Advancing biology through–omics and bioinformatic technologies wants to capture outcomes from the current revolution in molecular technologies and sciences. The journal has broadened its scope and embraces any high quality research papers, reviews and opinions in areas including, but not limited to, molecular biology, cell biology, biochemistry, immunology, physiology, epidemiology, ecology, virology, microbiology, parasitology, genetics, evolutionary biology, genomics (including metagenomics), bioinformatics, proteomics, metabolomics, glycomics, and lipidomics. Submissions with a technology-driven focus on understanding normal biological or disease processes as well as conceptual advances and paradigm shifts are particularly encouraged. The Editors welcome fundamental or applied research areas; pre-submission enquiries about advanced draft manuscripts are welcomed. Top quality research and manuscripts will be fast-tracked.
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