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首页> 外文期刊>Balkan journal of medical genetics: BJMG >Results of liquid biopsy studies by next generation sequencing in patients with advanced stage non-small cell lung cancer: Single center experience from Turkey
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Results of liquid biopsy studies by next generation sequencing in patients with advanced stage non-small cell lung cancer: Single center experience from Turkey

机译：晚期非小细胞肺癌患者下一代测序液体活检研究结果：土耳其单一中心经验

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Several studies demonstrated the utility of plasma-based cell-free circulating tumor DNA (ccfDNA) in determination of mutations in non-small cell lung cancer (NSCLC). We aimed to report our results of next generation sequencing (NGS) using liquid biopsy in patients with NSCLC. Patients with advanced stage NSCLC were enrolled and their genomic profiling results were recorded. Next generation sequencing targeted panel includes 19 hot-spot genes. The plasma was separated from the peripheral blood sample and ccfDNAs were isolated for NGS. We performed genomic profiling in 100 patients (20 females and 80 males) with a median age of 59.3 (range 26-79). A second liquid biopsy was performed in eight patients who developed progressive disease after the first treatment. The study population had adenocarcinoma (AC) (n = 73), squamous cell carcinoma (SCC) (n = 14), or NSCLC-NOS (not otherwise specified) (n = 13). In the SCC group, three of 14 patients had variants on EGFR and MET genes. In the AC and NSCLC-NOS groups, 39 out of 86 patients (45.3%) had variants. The most common one was in the EGFR gene (n = 27, 31.4%) including seven mutations related to drug resistance and two were polymorphisms. Three patients had both driver and resistance mutations (EGFR T790M, n = 2; KRAS exon 2 G12S and MET exon 14 E1012K, n = 1). Fifteen patients (17.4%) had an activating EGFR mutation and eight patients (9.3%) had variants in the KRAS gene. We reported our results regarding genomic profiling related to treatment using liquid biopsy in patients with NSCLC. Advantages of this method are the non invasiveness and reproducibility.
机译：几项研究证明了基于血浆的无细胞循环肿瘤DNA（CCFDNA）在非小细胞肺癌（NSCLC）中的突变中的效用。我们旨在使用NSCLC患者使用液体活检报告我们的下一代测序（NGS）的结果。注册了高级NSCLC患者，并记录了其基因组分析结果。下一代测序靶向面板包括19个热点基因。将血浆与外周血样品分离，并将CCFDNAs分离出NGS。我们在100名患者（20名女性和80名男性）中进行了基因组分析，中位年龄为59.3（范围26-79）。第二次液体活检是在第一次治疗后开发渐进性疾病的八名患者中进行的。研究人群具有腺癌（AC）（AC）（N = 73），鳞状细胞癌（SCC）（N = 14）或NSCLC-NOS（未另外规定）（n = 13）。在SCC组中，14例患者中有三种患者在EGFR和符合基因中有变体。在AC和NSCLC-NOS组中，86名患者中的39名（45.3％）有变体。最常见的是在EGFR基因（n = 27,31.4％）中，包括与耐药性有关的七个突变，两种突变是多态性。三名患者均有驾驶员和抗性突变（EGFR T790M，N = 2; KRAS EXON 2 G12S和EXON 14 E1012K，N = 1）。十五名患者（17.4％）具有激活EGFR突变，8名患者（9.3％）在KRAS基因中有变体。我们报道了我们对使用NSCLC患者使用液体活组织检查的基因组分析的结果。该方法的优点是非侵入性和再现性。

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