共查询到19条相似文献,搜索用时 281 毫秒
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目的:探讨非小细胞肺癌患者血清EGFR基因突变循环DNA检测的临床意义。方法:选取2011年1月-2014年5月于我院接受治疗的124例非小细胞肺癌患者为研究对象,收集血清及组织标本DNA,检测DNA EGFR基因突变情况。结果:124例非小细胞肺癌患者血清EGFR基因检测结果显示:19号外显子突变11例,21号外显子突变8例,血清总检出19例,检出率为15.3%。组织样本中EGFR基因检测结果显示:19号外显子突变27例,21号外显子突变13例,血清总检出40例,检出率为32.3%。在组织样本中,79例男性EGFR基因突变检出14例,比例为17.7%;45例女性EGFR基因突变检出26例,比例为57.8%,相比具有显著性差异(P<0.05)。76例吸烟史患者检出突变16例,比例为21.1%;48例无吸烟史者检出突变24例,比例为50.0%,两者相比差异显著(P<0.05)。血清样本检测中结果与组织样本基本吻合,在性别和吸烟史方面患者基因突变有显著性差异(P<0.05),在癌症分期及类型方面无显著性差异(P>0.05)。结论:非小细胞肺癌患者血清循环DNA检测EGFR基因突变与肿瘤组织检测具有高度的一致性,这对肺癌患者的诊断、筛查和治疗有着重要的意义,为临床检测提供方便、有效的诊断方法。 相似文献
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目的:通过血清循环DNA的基因突变检测,筛选EGFR突变型肺癌患者并评估靶向性药物吉非替尼对其的临床疗效。方法:从肺癌患者血清中提取DNA,采用PCR扩增和基因测序检测EGFR突变。结果:116例肺癌血样中检出EGFR突变46例,突变率为39.7%,其中外显子19和21突变分别占65.2%(30/46例)和34.8%(16/46例),EGFR基因突变多见于女性患者和肺腺癌(包括腺鳞癌)患者。对20例肺癌的进一步分析证明,血清EGFR基因突变类型与患者自身肿瘤的突变类型相同。另外通过血清循环DNA基因检测法筛选了19例化疗失败的突变型晚期肺癌进行吉非替尼靶向治疗,客观有效率为52.6%,病情控制率为89.5%,中位无进展生存时间为8个月,中位生存时间为12个月,2年生存率达到33.3%。结论:证实血清循环DNA与肿瘤组织DNA的EGFR基因突变一致;以血清循环EGFR突变检测结果为依据选择分子靶向性药物吉非替尼治疗,对晚期肺癌患者疗效明显。 相似文献
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目的探讨利用qPCR-HRM法检测血清循环EGFR突变的可能性并与组织检测结果比较。方法收集北京协和医院胸外科2010年6月至2011年7月收治的42例非小细胞肺癌(NSCLC)患者的石蜡标本及术前静脉血样,用qPCR-HRM法分别检测其EGFR突变情况。结果 42例血样中EGFR突变率35.7%(15/42),肿瘤组织则为33.3%(14/42)。统计表明血浆和组织中的EGFR突变的检测结果未见差别(P0.05)。κ值为0.842(P0.001)。结论使用qPCR-HRM法检测NSCLC患者血清与肿瘤组织的EGFR突变具有极好的一致性。 相似文献
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目的:检测非小细胞肺癌患者血浆表皮生长因子受体( EGFR)基因突变表达情况,探讨其临床意义。方法采用荧光定量PCR法检测90例非小细胞肺癌患者组织及血浆EGFR的基因突变表达情况,分析两者的一致性,并分析血浆EGFR与患者预后的关系。结果非小细胞肺癌患者的血浆与肿瘤组织中EGFR突变表达是一致的,血浆EGFR突变表达与非小细胞肺癌的病理类型、肿瘤大小及淋巴结转移有关,但血浆EGFR突变表达与非小细胞肺癌患者的疾病进展时间、生存时间无关。结论非小细胞肺癌患者血浆EGFR的检测有可能替代肿瘤组织中EGFR的检测,为无法取得肿瘤组织或取得肿瘤组织困难的患者提供一种更快捷、简便的替代检测方法,但血浆EGFR尚不能确立为独立的预后指标。 相似文献
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目的 对PI-RADS v2.1与PI-RADS v2在检测有临床意义的前列腺癌(cs PCa)中的诊断性能进行Meta分析。方法 以“PIRADS v2.1”或“PI-RADS v2.1”为关键词检索CNKI、CBM、Medline、Embase等数据库所有文献。使用诊断准确性研究质量评估工具(QUADAS-2)进行文献质量评价,使用STATA17.0和Re Man5.4软件进行Meta分析。使用森林图表示每项研究的PI-RADS v2.1与PI-RADS v2的敏感度、特异性,并对敏感度、特异性、阳性似然比、阴性似然比、诊断比值比进行合并,以综合受试者工作特征曲线(SROC)对诊断性能进行评估。对肿瘤位置、不同阈值、作者国籍进行亚组分析。结果 共纳入12项研究,3158例患者,3243个病灶。PI-RADS v2.1在检测所有分区及整个腺体csPCa性能的SROC曲线下面积(AUC)较大。亚组分析显示:PI-RADS v2.1在检测移形带cs PCa性能的SROC曲线下面积(AUC)较大;阈值为4时和中国的研究中PI-RADS v2.1在检测cs PCa性能的SROC曲线下面积(A... 相似文献
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目的利用高分辨率熔解曲线分析技术(high resolution melting,HRM)检测石蜡包埋组织和血清游离DNA的表皮生长因子受体(epidermal growth factor receptor,EGFR)基因突变,分析两者之间的关系,并探讨其临床应用价值。方法利用HRM技术检测EGFR基因突变的方法,检测200例非小细胞肺癌患者石蜡包埋标本和200例相应的血清游离DNA,并将二者结果进行比较分析。结果HRM法检测非小细胞肺癌患者石蜡包埋组织DNA的EGFR基因突变总检出率为43.5%,血清游离DNA的EGFR基因突变总检出率为25.0%,HRM法检测血清游离DNA的EGFR基因突变与检测石蜡包埋组织DNA的EGFR基因突变相比,敏感性为57.5%,特异性为100%。结论 HRM法检测血清游离DNA的EGFR基因突变为无法获取肿瘤组织标本的患者提供了新的检测机会。 相似文献
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《中国肿瘤临床与康复》2014,(7)
目的评价非小细胞肺癌患者组织表皮生长因子受体(epithelial growth factor receptor,EGFR)突变与EGFR蛋白表达水平的相关性及临床应用价值。方法采用突变富集液相芯片技术和免疫组织化学方法分别检测60例非小细胞肺癌组织中EGFR 19、18、21和20外显子基因突变和EGFR蛋白表达水平,对检测结果进行相关性分析。结果突变富集液相芯片检测显示,EGFR外显子19和21的突变率为26.7%(16/60);免疫组化检测EGFR蛋白表达为50.0%(30/60),两者呈正相关(r=0.676,P=0.0001)。结论突变富集液相芯片技术检测非小细胞肺癌组织EGFR突变与免疫组织化学检测的EGFR蛋白表达水平具有较好的相关性,两者互为补充,对于预测EGFR-TKI的生存获益具有更大的价值。 相似文献
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目的:探讨肺癌组织中EGFR基因启动子的甲基化水平及甲基化状态与EGFR外显子突变的关系.方法:应用聚合酶链技术、基因克隆测序技术和荧光偏振技术,检测肺癌患者病理组织中EGFR基因启动子的甲基化水平.结果:76例肺癌组织中EGFR基因启动子甲基化阳性者23例,检出率为30.3%,甲基化状态与肺癌患者的性别、年龄、吸烟史、淋巴结转移、浸润程度和TNM分期均无明显相关性,与患者的病理类型密切相关,吸烟对甲基化的相对危险度(OR)为1.88,40例NSCLC患者中,29例未检测到敏感突变的患者中有10例甲基化为阳性,甲基化率为34.5%,而11例TKI敏感突变的患者中均未检测到甲基化.结论:肺癌患者EGFR基因存在启动子甲基化,EGFR外显子的突变状态与启动子甲基化有密切关系. 相似文献
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目的分析晚期肺癌的上皮生长因子受体(epidermal growth factor receptor,EGFR)外显子19基因突变的类型及发生率。方法从血清中提取游离DNA进行EGFR外显子19特异性PCR扩增和基因测序。结果24例肺部良性疾病血样中EGFR基因外显子19均为野生型;而130例肺癌血样中检出突变55例,EGFR外显子19基因突变的检出率为42.3%。外显子19基因突变均为第746~752位密码子的碱基缺失,共有7种突变类型。外显子19基因突变主要见于肺腺癌及小细胞肺癌,其检出率分别为58.9%和57.1%,突变与患者年龄及性别无明显相关性。在肺癌的不同组织类型中,外显子19的突变形式存在显著差异,肺腺癌的基因突变谱与肺鳞癌、腺鳞癌及小细胞肺癌明显不同。结论晚期肺癌病人的血清游离DNA中存在EGFR基因突变,这类突变可以通过适当的方法检测出来,这种血液检测方法在晚期肺癌的EGFR基因诊断及靶向治疗中具有广泛的应用价值。 相似文献
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《Lung cancer (Amsterdam, Netherlands)》2015,89(3):246-253
BackgroundThe detection of epidermal growth factor receptor (EGFR) mutations in plasma or serum has previously been reported to be feasible for non-small-cell lung cancer (NSCLC). However, not all results indicate a consistency between EGFR mutation status in the plasma or serum and that in tissues.MethodsA meta-analysis was performed to evaluate the overall accuracy of EGFR mutation detection in plasma or serum. Publications up to December 2014 were searched for using the PubMed, Embase and Web of Science databases. Sensitivity, specificity and other accuracy measures were pooled using the bivariate mixed-effects regression model.ResultsTwenty-six studies were included in this meta-analysis. The pooled specificity, sensitivity, positive and negative likelihood ratios, and diagnostic odds ratios were 0.97 (95% confidence interval (CI): 0.93–0.99), 0.65 (95% CI: 0.54–0.74), 24.9 (95% CI: 9.2–67.2), 0.36 (95% CI: 0.27–0.48), and 69 (95% CI: 24–202), respectively. The summary receiver operating characteristic curve was 0.89 (95% CI: 0.86–0.91).ConclusionsThe detection of EGFR mutations in plasma or serum is a noninvasive method to confirm EGFR mutation status in patients with NSCLC. However, more work is necessary to identify which method can raise the sensitivity of EGFR mutation detection. 相似文献
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Cell Free Tumoral DNA Versus Paraffin Block Epidermal Growth Factor Receptor Mutation Detection in Patients with Non-Small Cell Lung Cancer
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Hanifeh Mirtavoos-MahyariMohsen GhadamiAdnan KhosraviZahra Esfahani-MonfaredSharareh SeifiElaheh MotevaseliMihan PourabdollahMohammadhossein Modarressi 《Asian Pacific journal of cancer prevention》2019,20(12):3591-3596
Increasing knowledge about the molecular profile of tumors has led to personalized treatment for achieving better outcomes in patients with nonsmall cell lung cancer (NSCLC). Currently, finding exact somatic genomic changes of tumor has gained great importance. On the other hand, crescendoing needs to actual tumor tissue at different time points during cancer treatment may produce major discomfort for NSCLC patients. Tumor genomes can be reconstructed by information obtained from circulating cell-free deoxyribonucleic acid (cfDNA) of peripheral blood. cfDNA may be represented as a suitable alternative test for epidermal growth factor receptor (EGFR) mutation detection in these patients. This study aimed to assess validity of cfDNA in somatic EGFR mutation identification in Iranian NSCLC cases. Methods: Somatic mutation of EGFR gene was studied in both tissue specimens and plasma. Then, mutations were detected by polymerase chain reaction(PCR) and sequencing. Results: We observed a high concordance (90%) between tissue samples and cfDNA for EGFR gene mutation. The sensitivity, accuracy, and positive precision value were 90%, 90% and 100%, respectively. A false negative rate of 10% was also demonstrated in this study. Conclusion: We established sensitive methods for detecting EGFR gene mutation which may be very useful in clinical practice. 相似文献
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目的检测肺腺癌组织中表皮生长因子受体(EGFR)19、21外显子基因突变和拷贝数,分析EGFR基因突变和拷贝数变化的相关性。方法应用荧光定量PCR技术和荧光原位杂交(FISH)技术分别检测58例肺腺癌患者肿瘤组织中的EGFR基因突变和基因扩增,用X^2检验进行数据分析。结果58例肺腺癌患者组织中,EGFR19、21外显子突变率为43.1%(25/58),其中2例存在两种类型的突变。EGFR基因拷贝数增加阳性率为51.7%(30/58),包括8例扩增,22例高多体扩增。不同分化程度的肺腺癌组织间,扩增阳性率差异无统计学意义(P〉0.05),低分化癌的突变率低于高、中分化癌(P〈O.05)。EGFR基因突变与EGFR基因拷贝数之间显著相关(P〈0.01)。结论肺腺癌组织具有较高的EGFR基因突变率和扩增阳性率;联合检测EGFR基因拷贝数和基因突变,更有利于靶向药物的筛选。 相似文献
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The gold standard test for detection of epidermal growth factor receptor (EGFR) mutation is to genotype somatic DNA extracted from a tissue biopsy or cytology specimen. Yet, in at least 20% of patients this is not possible for various reasons including insufficient availability of neoplastic tissue, lack of fitness of the available tissue for a biopsy or that a biopsy is not technically feasible. Consequently, there has been intense investigation of circulating tumour DNA (ctDNA), released into the plasma fraction of blood from cancer cells during apoptosis/necrosis, as a minimally invasive ‘liquid biopsy’ and surrogate for cancer tissue. In 2014, the license for the EGFR tyrosine kinase inhibitor (EGFR-TKI), gefitinib, was updated to allow the use of plasma to determine EGFR mutation status in patients where tissue was not available. Then in 2016 the United States Food and Drug Administration (US FDA) approved the first companion diagnostic plasma EGFR test. Herein, we review the evidence for ctDNA as a diagnostic in patients with non-small cell lung cancer (NSCLC) and describe steps needed to incorporate such ‘liquid biopsies’ into everyday routine practice. 相似文献
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目的:探讨晚期非小细胞肺癌(non-small cell lung cancer,NSCLC)外周血循环肿瘤DNA(circulating tumor DNA,ctDNA)表皮生长因子受体(epidermal growth factor receptor,EGFR)突变与EGFR酪氨酸激酶抑制剂(tyrosine kinase inhibitor,TKI)治疗疗效的相关性。方法:利用突变扩增阻滞系统(amplification refractory mutation system,ARMS)法检测50例NSCLC患者外周血ctDNA EGFR突变,其中27例进行组织与ctDNA配对检测。给予TKI治疗一月后进行疗效评价。对ctDNA EGFR突变与患者的临床因素、疗效相关性进行分析,并比较ctDNA与肿瘤组织EGFR突变的一致性。结果:患者性别、年龄、PS评分、病理类型、吸烟史与ctDNA EGFR突变无明显相关性(P>0.05)。ctDNA EGFR突变组客观缓解率(76.5%)、疾病控制率(100%)均高于野生型组(30.3%,60.6%)(P<0.05)。生存分析结果显示:ctDNA EGFR突变组无进展生存期(12个月)较野生型组长(4个月)(P<0.05)。27例配对检测结果显示:ctDNA与肿瘤组织EGFR突变一致率为66.7%(18/27,Kappa=0.400,P<0.05)。无进展生存期:ctDNA(23个月)/肿瘤组织(12个月)EGFR突变组均长于野生型组(2个月/1个月)(P<0.05)。结论:晚期NSCLC外周血ctDNA EGFR突变患者TKI治疗有效率高,ctDNA与肿瘤组织EGFR突变一致性好,作为肿瘤组织的替代检测标本是可行的。 相似文献
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Biological therapy with epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) have noted promising outcomes for patients with non-small cell lung carcinoma (NSCLC), especially those with mutated EGFR. Tissue EGFR gene mutation testing can predict the benefit of taking a first-line EGFR-TKI, thus, allowing the physician to prescribe the most suitable therapy. Unfortunately, most lung cancer patients, especially NSCLC patients present with advanced disease that is surgically unresectable. The goal of this study was to develop high-resolution melting (HRM) assays to detect EGFR mutations in exons 18 to 21, compare their sensitivity and concordance to direct sequencing, and evaluate the feasibility and reliability of serum as a tissue alternate for routine EGFR mutation screening. EGFR mutations of 126 Formalin-Fixed Paraffin-Embedded (FFPE), 47 fresh frozen tissues and from 47 matched pre-operation serum specimens of NSCLC patients were screened by the HRM assays. EGFR mutations by HRM were confirmed through sequencing. We found 78 EGFR mutations in 70 FFPE tissues, 25 EGFR mutations in 24 fresh frozen tissues, with a mutation rate of 55.56% (70/126) and 51.06% (24/47), respectively. Most mutations were correctly identified by sequencing. EGFR mutations were detected in 22 serum samples from 24 tissue EGFR mutation-positive patients. The concordance rate between serum and tissue in EGFR mutation screening was 91.67%. We conclude that the HRM assay can provide convincing and valuable results both for serum and tissues samples, thus, it is suitable for routine serum EGFR mutation screening for NSCLC patients, especially those surgically unresectable. 相似文献
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目的:血清癌胚抗原(CEA)与癌组织标本中甲状腺转录因子-1(TTF-1)检测对肺腺癌表皮生长因子受体(EGFR)突变的预测价值。方法:选取2018年6月至2019年5月本院胸心外科住院部收治的92例经常规病理检查证实肺腺癌患者作为研究对象,根据突变特异性扩增系统(ARMS)聚合酶链反应(RT-PCR)方法检测EGFR突变结果分为EGFR突变组(n=55)和EGFR野生组(n=37),观察两组患者CEA、TTF-1表达情况,不同浓度CEA及与TTF-1联合对EGFR突变的预测价值。结果:EGFR突变组患者血清CEA水平、阳性率均明显高于EGFR野生组(P<0.05);EGFR突变组患者TTF-1阳性率为89.09%,高于EGFR野生组的13.51%(P<0.05);肺腺癌患者血清CEA水平≥5μg/L、≥20μg/L、≥50μg/L EGFR突变率高于<5μg/L患者(P<0.05),五组间EGFR突变率比较差异有统计学意义(P<0.05);血清CEA≥5μg/L对EGFR突变的敏感度、特异性较高;CEA≥5μg/L+TTF-1预测肺腺癌EGFR突变的敏感度、特异性、阳性预测值、阴性预测值、准确度最高。结论:肺腺癌EGFR突变患者血清CEA水平升高,TTF-1阳性率高,当CEA≥5μg/L且TTF-1阳性表达时对肺腺癌EGFR突变的预测率高。 相似文献
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非小细胞肺癌组织化疗前后表皮生长因子受体基因的突变 总被引:1,自引:1,他引:0
目的:探讨非小细胞肺癌(non-small cell lung cancer,NSCLC)患者化疗前、后肿瘤组织中表皮生长因子受体(epidermal growth factor receptor,EGFR)基因外显子19和21的突变状况。方法:提取31例NSCLC患者化疗前、后肿瘤组织标本中的基因组DNA,采用巢式PCR技术扩增EGFR基因外显子19和21,并进行测序分析。结果:6例患者化疗前、后EGFR基因发生突变,其中4例为19号外显子发生缺失突变,2例为2l号外显子发生替代突变,且化疗前、后的突变状况一致。女性患者突变率(2/3)高于男性(4/28)(P=0.029),非吸烟者的突变率(4/9)高于吸烟者(2/22)(P=0.043)。结论:NSCLC组织EGFR基因外显子19和21突变在化疗前、后无明显改变。 相似文献