利用离子流测序技术检测肺腺癌的突变和融合

V. Stratan, Valeri Țuțuianu, Victor Sîtnic, Corneliu Prepelita, Cristina Popa, Valeriu Bilba, Sergiu Brenister
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引用次数: 0

摘要

介绍。腺癌是最常见的肺肿瘤,通常在晚期诊断出来,因为肿瘤具有多种遗传改变和激活突变过程的多克隆形式。对此类患者FFPE组织样本的突变状态进行综合分析可以提供治疗视角,并有助于临床决策,从而提高总体生存率。材料和方法。使用两个Ion AmpliSeq面板分析22个基因的突变和4个基因的融合转录本。从石蜡包埋组织切片中分离DNA,同时使用石蜡块和新鲜肿瘤组织两种样品进行RNA分析。使用Ion Reporter、ONCOMINE、R语言进行关键变异检测和数据分析。结果。对30个肿瘤样本的研究允许在19个基因中检测147个突变和4个融合,并且具有治疗作用的变异与临床批准或处于临床试验阶段的不同药物相关。在TP53、EGFR和NOTCH1基因中发现了最多的遗传变异,TP53基因的患病率超过50%,而所有4个检测到的融合(每个样本一个融合)都代表了ALK基因与其他伙伴的关联:EML4(13)-ALK(20) -存在于2个样本中;EML4(6)碱性(20);以及与未知伴侣基因的ALK融合。结论。通过分析肺腺癌患者肿瘤样本的突变状态,确定了以FFPE组织为主要材料,覆盖点突变、INDELs和snv以及基因融合的基因面板测序的治疗效用。这对靶向单一治疗和联合治疗都有效。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Detection of mutations and fusions in lung adenocarcinoma using ion torrent sequenc-ing technology
Introduction. Adenocarcinomas are the most common lung tumors and are often diagnosed in advanced stages when the tumor has a polyclonal form with a wide variety of genetic alterations and activated mutational processes. Comprehensive analysis of mutational status from FFPE tissue samples in such patients can provide a therapeutic perspective and contribute considerably to clinical decisions thereby increasing the overall survival rate. Material and methods. 22 genes were analyzed for mutations and 4 genes for fusion transcripts using two Ion AmpliSeq panels. DNA was isolated from paraffin-embedded tissue sections while RNA analysis was performed using two types of samples: paraffin blocks and fresh tumor tissue. Key variant detection and data analysis was performed using next platforms: Ion Reporter, ONCOMINE, R language. Results. The study of 30 tumor samples allowed the detection of 147 mutations and 4 fusions in 19 genes, and the therapeutically actionable variants were associated with different drugs clinically approved or in the phase of clinical trials. The most genetic variants were identified in the TP53, EGFR and NOTCH1 genes with a prevalence of over 50% in the TP53 gene, while all 4 detected fusions (one fusion per sample) represent the association of the ALK gene with other partners: EML4(13)-ALK(20) – present in 2 samples; EML4(6)-ALK(20); and an ALK fusion with an unknown partner gene. Conclusions. Analyzing the mutational status of tumor samples from patients with lung adenocarcinoma it has been ascertained the therapeutic utility of gene panel sequencing covering point mutations, INDELs and SNVs, as well as gene fusions, using FFPE tissue as primary material. This is valid for both targeted monotherapies and combined therapies.
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