超声引导粗针活检在非小细胞肺癌诊断及EGFR基因突变检测中的应用

目的:探讨超声引导下粗针活检在周围型非小细胞肺癌的诊断及EGFR基因突变检测中应用价值.方法:31例周围型非小细胞肺癌患者行超声引导下肺肿块粗针活检术,活检小标本行病理学检测及PCR法EGFR基因突变分析.结果:31例非小细胞肺癌活检小标本取材满意率100％,穿刺定性诊断符合率100％,EGFR基因检出率100％,并发症发生率3.2％.病理结果:腺癌25例、鳞癌2例、腺鳞癌3例、肉瘤样癌1例.31例非小细胞肺癌活检小标本中,检测到EGFR基因突变11例,阳性率35.5％.其中5例为第19外显子框内多核苷酸缺失,5例为第21外显子L858R突变,1例为联合突变L861Q/G719X(第18外显子G719X突变和第21外显子L861Q突变).结论:超声引导下肺肿块粗针活检术简便、安全、有效,能明确周围型非小细胞肺癌的诊断,是非小细胞肺癌获得肿瘤组织检测EGFR基因突变的可靠方法.     

超声引导下肺肿块粗针活检在NSCLC患者EGFR 基因突变检测中的价值

目的探究超声引导下肺肿块粗针活检在非小细胞肺癌(NSCLC)患者表皮生长因子受体(EGFR)基因突变检测中的价值。方法回顾性分析96例NSCLC患者临床资料。96例NSCLC患者均采用超声引导下肺肿块粗针活检,分析穿刺成功率及EGFR基因突变检测结果。结果 96例患者均采用16G粗针活检,并顺利完成穿刺活检,取材满意率100.00%;96例患者病理均确诊为NSCLC,其中腺癌、鳞癌、腺鳞癌、肉瘤样癌各有77例、6例、8例、5例。穿刺术后有1例患者出现咯血,采用止血药物治疗后缓解;2例患者出现针道少许渗血,但未做特殊处理,观察1～2 h后无不适反应。96例NSCLC患者中检测EGFR基因突变有44例,突变率为45.83%(44/96),其中20例为外显子19突变;16例为外显子21突变,4例为外显子20突变,4例为外显子20、21均突变。结论超声引导下肺肿块粗针活检有利于准确诊断NSCLC并检测EGFR基因突变情况,是一种安全有效的取材手段,具有临床应用安全、简便且易于推广等优势,可为临床分子靶向药物的治疗提供确切依据。     

超声引导下经皮乳腺粗针活检术的临床应用

目的:探讨在超声引导下经皮粗针活检术(CNB)在乳腺占位性病变诊断中的临床应用。方法:用Bard 14G、16G切割针自动活检枪在超声引导下经皮穿刺16例患者的18个乳腺占位性病变,所取组织进行组织病理诊断,并与术后病理检查结果相比较。结果:18个乳腺占位性病变中,穿刺活检良性7例、恶性11例,病理诊断良性3例、恶性15例,假阴性4例,诊断准确率83.3%。超声引导下14G切割针取材成功率100%。所有病例穿刺活检后均无并发症发生。结论:超声引导下经皮粗针活检术操作简单,安全可靠,对乳腺占位性病变的诊断准确率高,并发症发生率低,是临床确定乳腺占位性病变性质的有效方法。     

超声引导下粗针穿刺活检在乳腺癌诊断和治疗中的应用价值

[目的]探讨超声引导下经皮粗针穿刺活检(core needle biopsy,CNB)在乳腺癌诊断和治疗中的应用价值.[方法]回顾性分析189例临床可疑乳腺肿块经CNB组织病理学检查结果以及临床资料.[结果] 189例患者中,CNB阳性结果119例(其中低估者4例),阴性结果70例(其中假阴性4例),没有假阳性结果.本组病例中CNB确诊率93.5％,假阴性率6.5％(包括4例低估病例),并有不同比例患者接受新辅助化疗和保乳手术.[结论]超声引导下乳腺可疑肿块CNB病理学检查准确率高、安全、可靠,能满足目前原发性乳腺癌综合治疗发展的需要,在乳腺癌的诊断和治疗中有很高的应用价值.     

非小细胞肺癌中EGFR和K-ras基因突变检测

目的:探讨不同类型非小细胞肺癌的EGFR和K-ras基因突变情况及其与肺癌相关临床病理特征的关系。方法:用厦门艾德ADxARMS试剂盒进行98例非小细胞肺癌患者肿瘤组织中EGFR（18,19,20,21外显子）基因和K-ras（12,13,61密码子）基因突变的检测。所有患者均未接受过吉非替尼的治疗。结果:98例样本中31例发生了EGFR基因突变,突变率为31.6%（31/98）,其中15例为19外显子缺失,13例为21 L858R外显子点突变,3例为20外显子突变,1例为18外显子突变。其中1例既有19外显子缺失突变,又有20外显子突变。腺癌中EGFR基因突变率较鳞癌、腺鳞癌、大细胞癌高。女性患者EGFR基因突变率较男性高。不吸烟患者EGFR基因突变率较吸烟患者高。低分化腺癌患者EGFR基因突变率较中、高分化患者高。21例发生了K-ras基因突变（21.4%）,其中12、13、61密码子均发现突变。突变率腺癌较鳞癌、腺鳞癌、大细胞癌高,与是否吸烟、患者性别、分化程度均无相关性。结论:非小细胞肺癌患者EGFR基因突变检出率较高,K-ras基因突变率较低,且两者不存在同时突变,EGFR基因突变与肺癌组织学类型、分化程度、性别等相关。K-ras基因突变与组织学类型相关。     

超声引导下粗针活检术诊断不可触及乳腺病变的研究

目的：评价超声引导下粗针活检术（US－CNB）对不可触及的乳腺病变（NPBL）的诊断意义。方法：对138例女性患者的162处NPBL进行US－CNB和切除活检,以切除活检病理结果为诊断标准。结果：NPBL大小为3－24mm(平均11．1mm）。在US－CNB标本中,142处为良性,3处为可疑恶性,14处为恶性,3处取材不当,在手术切除标本中,18处为恶性,144处为良性。US－CNB取材不当的3处均为良性。US－CNB诊断阳性率为94．44％（17／18）,特异性为100．00％（141／141）,正确率为99．37％（158／159）。结论：US－CNB诊断NPBL安全、创伤小、准确率高。     

超声引导粗针活检及触诊下细针活检对颈部肿块的诊断对比观察

目的：探讨超声引导粗针活检（14G-18G）与触诊下普通细针穿刺抽吸活检（20-22G）对颈部肿块诊断的价值。方法：124例颈部肿块患者中68例行超声引导下粗针穿刺活检,另56例行触诊下细针穿刺抽吸活检,将二者的诊断结果进行对比。所取组织能作出明确的细胞学或（和）组织学病理诊断者为取材满意,否则为不满意。结果：粗针活检68例,平均进针2.4次/例,满意率98.5%;细针56例,每例进针1次,满意率64.3%。结论：超声引导下粗针活检同细针穿刺抽吸活检一样安全,且所取标本较大、完整,有利于病理科处理和组织学分型,值得在临床推广应用。     

超声引导粗针活检及触诊下细针活检对颈部肿块的诊断对比观察

目的:探讨超声引导粗针活检(14G-18G)与触诊下普通细针穿刺抽吸活检(20-22G)对颈部肿块诊断的价值。方法:124例颈部肿块患者中68例行超声引导下粗针穿刺活检,另56例行触诊下细针穿刺抽吸活检,将二者的诊断结果进行对比。所取组织能作出明确的细胞学或(和)组织学病理诊断者为取材满意,否则为不满意。结果:粗针活检68例,平均进针2.4次/例,满意率98.5%;细针56例,每例进针1次,满意率64.3%。结论:超声引导下粗针活检同细针穿刺抽吸活检一样安全,且所取标本较大、完整,有利于病理科处理和组织学分型,值得在临床推广应用。     

非小细胞肺癌胸腔积液与配对肿瘤组织中EGFR基因突变检测的比较

目的:探讨非小细胞肺癌胸腔积液与配对肿瘤组织标本中EGFR基因突变检测结果的一致性,评价胸腔积液标本检测EGFR基因突变的应用价值.方法:收集非小细胞肺癌患者胸腔积液与配对肿瘤组织样本72例,采用ARMS方法,检测样本中EGFR基因第18~21外显子突变情况.结果:细胞学样本和组织学样本中EGFR基因突变阳性率分别为48.61%和51.39%,两者差异无统计学意义(P>0.05),二者一致率为92.11%,不一致率为7.89%.结论:二者的一致率较高,恶性胸水可以作为无法获得肿瘤组织的晚期非小细胞肺癌EGFR基因检测的有效样本.     

实时经支气管超声引导针吸活检在肺癌分期中的应用

线性经支气管超声引导针吸活检(endobronchial ultrasound-guided transbronchial needle aspiration,EBUS-TBNA)是新引进的技术,它是实时超声下可视淋巴结的针吸活检。尽管有研究显示,其为肺癌纵隔分期的有效方法,但全世界多数机构并未应用该技术。本报道旨在分享我们应用EBUS-TBNA的经验,并对相关文献做一简要概述。我们对有关该技术的已有文献进行综述,并特别介绍了我们应用该技术方面的经验。EBUS-TBNA用以探查肺癌患者的转移性纵隔淋巴结和/或肺门淋巴结是有效且安全的。在其它病理状态下,其亦为有效的诊断方法。     

Epidermal growth factor receptor mutations in needle biopsy/aspiration samples predict response to gefitinib therapy and survival of patients with advanced nonsmall cell lung cancer

Recently, mutations in the epidermal growth factor receptor (EGFR) gene in nonsmall cell lung cancer (NSCLC) patients were reported to correlate with gefitinib response. Less than 30% of NSCLC patients are surgically resectable; however, molecular analysis has to rely on nonsurgical diagnostic tissue samples. The objective of this study is to investigate EGFR mutation analysis on needle biopsy/aspiration samples and its correlations with gefitinib response and patients' survival. EGFR mutation was assessed from DNA of 63 paraffin-embedded small needle biopsy/aspiration specimens from 62 patients with NSCLC treated with gefitinib. The peripheral blood lymphocyte DNA of the patients was sequenced to verify the EGFR mutation. EGFR mutations were found in 47% of 62 patients (60% of 20 CT-guided biopsies, 44% of 18 ultrasound-guided biopsies, 31% of 16 endoscopic biopsies and 44% of 9 effusion cell blocks). EGFR mutations were frequently present in females (p = 0.006) and never smokers (p = 0.04). Patients with EGFR mutations had a significantly better response rate compared to that of the nonmutation group (p < 0.001). Multivariate analysis showed that EGFR mutation (p < 0.001) and PS 0-1 (p = 0.02) were independently associated with a better response rate. Cox regression analysis showed that EGFR mutation was the independent prognostic factor for progression-free survival (p = 0.008) and overall survival (p = 0.03). In conclusion, EGFR mutation analysis is feasible in needle biopsy/aspiration paraffin-fixed specimens. EGFR mutation is an independent predictor of gefitinib response and survival in patients of advanced NSCLC treated by gefitinib.     

超声引导下空芯针穿刺活检对乳腺浸润性导管癌组织学分级的临床价值

目的:探讨超声引导下空芯针穿刺活检对乳腺浸润性导管癌组织学分级的临床价值。方法:回顾性分析我院就诊的临床病理资料完整的276例患者的资料。共302个病灶,均经超声引导下空芯针穿刺活检,术后病理证实为乳腺浸润性导管癌。每个病灶至少取3针。肿瘤级别的诊断依据是Bloom-Richardson组织学分级法。统计学方法应用科恩卡方检验,评估的内容包括低估率、高估率、不同大小(小肿瘤组:<1.0cm,中间组:1.0-2.5cm,大肿瘤组:>2.5cm)病灶的诊断符合率。结果:穿刺活检结果和术后病理结果的总体符合率为72.0%（simple κ=0.52;95%CI,0.38-0.61),穿刺活检对Grade 3级的诊断符合率89.7%(61/68),Grade 2级诊断符合率66.7%(120/180),Grade 1级诊断符合率65.8%(25/38)。穿刺活检对浸润性导管癌的总体高估率22.0%,总体低估率5.9%。当肿瘤体积增大时,穿刺活检容易出现较高的低估率,大肿瘤组42.4%,中间组21.9%,小肿瘤组16.0%(P<0.003)。结论:超声引导下空芯针穿刺活检能够准确预测高级别浸润性乳腺导管癌,肿瘤体积的增大在一定程度上影响了穿刺活检的准确性,造成较高的低估率。     

全自动与半自动活检针在CT引导经皮肺穿刺活检中的临床应用#br#

目的比较全自动式和半自动式两种活检针在CT引导下肺穿刺活检术的临床应用。 方法回顾2015年3月至2016年10月于本院进行CT引导下经皮肺穿刺活检术患者242例,其中157例使用全自动活检针（全自动组）,余85例使用半自动活检针（半自动组）,比较两组的穿刺成功率、充足标本率、诊断效能（准确率、敏感性和特异性）及常见并发症的发生率。 结果两组的穿刺成功率均为1000％,全自动组的充足标本率为1000％（157／157）,高于半自动组的953％（81／85）,差异有统计学意义（P＜005）;全自动组的特异度和准确率分别为917％（22／24）和981％（154／157）,均高于半自动组的700％（7／10）和准确率为926％（74／81）,差异有统计学意义（P＜005）,但全自动组和半自动组的敏感度为992％（132／133）和944％（67／71）,差异无统计学意义（P＞005）。全自动组针道出血的发生率为338％,高于半自动组的212％（P＜005）,两组气胸、血胸、痰中带血、穿刺相关感染、空气栓塞和和胸膜反应发生率的差异无统计学意义（P＞005）。 结论CT引导经皮肺肿物穿刺活检术操作中,两种活检针各有优缺点,仅适用范围不同,全自动活检针充足标本率、诊断准确率和特异性更高,并发症可控,半自动活检针针道出血风险小。     

Phosphorylated EGFR expression may predicts outcome of EGFR-TKIs therapy for the advanced NSCLC patients with wild-type EGFR

ABSTRACT: BACKGROUND: EGFR mutation is a strong predictive factor of EGFR-TKIs therapy. However, at least 10% of patients with EGFR wild-type are responsive to TKIs, suggesting that other determinants of outcome besides EGFR mutation might exist. We hypothesized that activation of phosphorylated EGFR could be a potential predictive biomarker to EGFR-TKIs treatment among patients in wild-type EGFR. METHOD: Total of 205 stage IIIb and IV NSCLC patients, tissue samples of whom were available for molecular analysis, were enrolled in this study. The phosphorylation of EGFR at tyrosine 1068 (pTyr1068) and 1173 (pTyr1173) were assessed by immunohistochemistry, and EGFR mutations were detected by denaturing high performance liquid chromatograph (DHPLC). RESULTS: Among 205 patients assessable for EGFR mutation and phosphorylation analysis, 92 (44.9%) were EGFR mutant and 165 patients (57.6%) had pTyr1173 expression. Superior progression-free survival (PFS) was seen after EGFR-TKIs therapy in patients with pTyr1068 expression compared to pTyr1068 negative ones (median PFS 7.0 months vs. 1.2 months, P<0.001). Inversely, patients with pTyr1173 had a shorter PFS (4.8 months VS. 7.7 months, P=0.016). In subgroup of patients with wild-type EGFR, pTyr1068 expression positive ones had a significantly prolonged PFS (4.2 months vs.1.2 months P<0.001) compared with those without pTyr1068 expression.Sixteen patients with both wild-type EGFR and pTyr1068 who responded to EGFR-TKIs had median PFS of 15.6 months (95%CI: 7.28-23.9). CONCLUSION: pTyr1068 may be a predictive biomarker for screening the population for clinical response to EGFR-TKIs treatment; especially for patients with wild-type EGFR.     

超声引导针吸活检在术前判断乳腺癌腋窝淋巴结状态中的应用

目的：研究对超声异常的腋窝淋巴结进行针吸活检的临床价值.方法：对47例cT1-2N0M0腋窝超声异常乳腺癌患者的腋窝淋巴结进行超声引导下针吸活检,结果与组织学病理结果进行对照.分析超声引导针吸活检术前判断乳腺癌腋窝淋巴结转移的敏感性、特异性、阳性预测值、阴性预测值和诊断准确率.结果：超声引导针吸活检判断腋窝淋巴结转移的敏感性、特异性、阳性预测值、阴性预测值和诊断准确率分别为82.8%、100.0%、100.0%、78.3%、89.4%.结论：超声引导针吸活检是术前评估腋窝淋巴结状态的有效检查方法,其结果对乳腺癌手术方式的选择具有重要参考价值.     

Targeted sequencing with enrichment PCR: a novel diagnostic method for the detection of EGFR mutations

Epidermal growth factor receptor (EGFR) is an important mediator of tumor cell survival and proliferation. The detection of EGFR mutations can predict prognoses and indicate when treatment with EGFR tyrosine kinase inhibitors should be used. As such, the development of highly sensitive methods for detecting EGFR mutations is important. Targeted next-generation sequencing is an effective method for diagnosing mutations. We compared the abilities of enrichment PCR followed by ultra-deep pyrosequencing (UDP), UDP alone, and PNA-mediated RT-PCR clamping to detect low-frequency EGFR mutations in tumor cell lines and tissue samples. Using enrichment PCR-UDP, we were able to detect the E19del and L858R mutations at minimum frequencies of 0.01% and 0.05%, respectively, in the PC-9 and H197 tumor cell lines. We also confirmed the sensitivity of detecting the E19del mutation by performing a titration analysis in FFPE tumor samples. The lowest mutation frequency detected was 0.0692% in tissue samples. EGFR mutations with frequencies as low as 0.01% were detected using enrichment PCR-UDP, suggesting that this method is a valuable tool for detecting rare mutations, especially in scarce tissue samples or those with small quantities of DNA.     

模拟机定位经胸肺穿刺诊断肺癌

 报道92例经胸肺穿刺检查的肺癌病人。 周围型肺癌77例, 中央型12例, 双肺弥漫型3例。 肿块最大10.0×10.0cm, 最小1.5×1.0cm。 84例查到癌细胞, 阳性率91.3%。 主要并发症为气胸, 发生率为9.8%。 本文还介绍了提高穿刺阳性率的经验。