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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：下一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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摘要

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 in = 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 METexon 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：一些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）突变检测中的应用。我们的目的是报告在NSCLC患者中使用液体活检进行下一代测序（NGS）的结果。入选晚期非小细胞肺癌患者，并记录其基因组图谱分析结果。下一代测序靶板包括19个热点基因。从外周血样中分离血浆，分离CCFDNA进行NGS检测。我们对100名患者（20名女性和80名男性）进行了基因组分析，平均年龄为59.3岁（范围26-79）。对8名在第一次治疗后出现进展性疾病的患者进行了第二次液体活检。研究人群中有腺癌（AC）（n=73）、鳞状细胞癌（SCC）（n=14）或NSCLC-NOS（未另行说明）（n=13）。在鳞状细胞癌组，14名患者中有3名存在EGFR和MET基因变异。在AC组和NSCLC-NOS组中，86名患者中有39名（45.3%）存在变异。最常见的一个是EGFR基因，在27例（31.4%）中，包括七个与耐药性相关的突变，两个是多态性。三名患者同时存在驱动突变和耐药突变（EGFR T790M，n=2；KRAS外显子2 G12S和METexon 14 E1012K，n=1）。15名患者（17.4%）存在激活型EGFR突变，8名患者（9.3%）存在KRAS基因变异。我们报告了与NSCLC患者液体活检治疗相关的基因组分析结果。该方法的优点是无创性和重现性。

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