Genetic screening of 5 blood group systems of Li ethnic group in Hainan province and establishment of rare blood group bank

Objective:To screen the blood group system genes of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of Li ethnic group in Hainan Province and provide laboratory data for the rare blood group database in this area.Methods:The alleles of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of 300 voluntary participants of Li ethnic group in Hainan were detected by sequence-specific primer polymerase chain reaction,and the polymorphism was analyzed.Results:The allele frequencies of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of Li ethnic groups in Hainan Province are 0.9583 for Fy^(a),0.0417 for Fy^(b),0.8350 for Au^(a),0.1650 for Au^(b),0.4500 for Jk^(a),0.5500 for Jk^(b),0.0667 for Di^(a),0.9333 for Di^(b),0.1017 for Doa and 0.8983 for Dob,respectively.The antigen incompatibility rates of Fy^(a)/Fy^(b),Au^(a)/Au^(b),Jk^(a)/Jk^(b),Di^(a)/Di^(b),Doa/Dob of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems were 7.67%,23.76%,37.25%,11.67%and 16.60%,respectively.Conclusion:The gene frequencies of Duffy,Lutheran,Kidd,Diego,Dombrock blood group systems of Li ethnic group in Hainan Province are polymorphic,and the antigen incompatibility rates of alleles are higher,which is quite different from that of other nationalities in China and with unique ethnic distribution characteristics.It is of great significance to establish the rare blood group database in this region.

Identification of Driver Genes in Primary Liver Cancer by Integrating NGS and TCGA Mutation Data

Background: This study is aimed towards an exploration of mutant genes in primary liver cancer (PLC) patients by using bioinformatics and data mining techniques. Methods: Peripheral blood or paraffin-embedded tissues from 8 patients with PLC were analyzed using a 551 cancer-related gene panel on an Illumina NextSeq500 Sequencer (Illumina). Meanwhile, the data of 396 PLC cases were downloaded from The Cancer Genome Atlas (TCGA) database. The common mutated genes were obtained after integrating the mutation information of the above two cohorts, followed by functional enrichment and protein-protein interaction (PPI) analyses. Three well-known databases, including Vogelstein’s list, the Network of Cancer Gene (NCG), and the Catalog of Somatic Mutations in Cancer (COSMIC) database were used to screen driver genes. Furthermore, the Chi-square and logistic analysis were performed to analyze the correlation between the driver genes and clinicopathological characteristics, and Kaplan-Meier (KM) method and multivariate Cox analysis were conducted to evaluate the overall survival outcome. Results: In total, 84 mutation genes were obtained after 8 PLC patients undergoing gene mutation detection with next-generation sequencing (NGS). The top 100 most mutate gene data from PLC patients in TCGA database were downloaded. After integrating the above two cohorts, 17 common mutated genes were identified. Next, 11 driver genes were screened out by analyzing the intersection of the 17 mutation genes and the genes in the three well-known databases. Among them, RB1, TP53, and KRAS gene mutations were connected with clinicopathological characteristics, while all the 11 gene mutations had no relationship with overall survival. Conclusion: This study investigated the mutant genes with significant clinical implications in PLC patients, which may improve the knowledge of gene mutations in PLC molecular pathogenesis.

Mutation analysis of 13 driver genes of colorectalcancer-related pathways in Taiwan Residents patients

AIM To investigate the driver gene mutations associatedwith colorectal cancer （CRC） in the Taiwan Residentspopulation.METHODS： In this study, 103 patients with CRCwere evaluated. The samples consisted of 66 menand 37 women with a median age of 59 years and anage range of 26-86 years. We used high-resolutionmelting analysis （HRM） and direct DNA sequencing tocharacterize the mutations in 13 driver genes of CRCrelatedpathways. The HRM assays were conductedusing the LightCycler？ 480 Instrument provided with the software LightCycler 480 Gene Scanning SoftwareVersion 1.5. We also compared the clinicopathologicaldata of CRC patients with the driver gene mutationstatus.RESULTS： Of the 103 patients evaluated, 73.79%had mutations in one of the 13 driver genes. Wediscovered 18 novel mutations in APC , MLH1 , MSH2 ,PMS2 , SMAD4 and TP53 that have not been previouslyreported. Additionally, we found 16 de novo mutationsin APC , BMPR1A , MLH1 , MSH2 , MSH6 , MUTYH andPMS2 in cancerous tissues previously reported in thedbSNP database; however, these mutations couldnot be detected in peripheral blood cells. The APCmutation correlates with lymph node metastasis（34.69% vs 12.96%, P = 0.009） and cancer stage（34.78% vs 14.04%, P = 0.013）. No association wasobserved between other driver gene mutations andclinicopathological features. Furthermore, having twoor more driver gene mutations correlates with thedegree of lymph node metastasis （42.86% vs 24.07%,P = 0.043）.CONCLUSION： Our findings confirm the importanceof 13 CRC-related pathway driver genes in the developmentof CRC in Taiwan Residents patients.

A feature extraction framework for discovering pan-cancer driver genes based on multi-omics data

The identification of tumor driver genes facilitates accurate cancer diagnosis and treatment,playing a key role in precision oncology,along with gene signaling,regulation,and their interaction with protein complexes.To tackle the challenge of distinguishing driver genes from a large number of genomic data,we construct a feature extraction framework for discovering pan-cancer driver genes based on multi-omics data(mutations,gene expression,copy number variants,and DNA methylation)combined with protein–protein interaction(PPI)networks.Using a network propagation algorithm,we mine functional information among nodes in the PPI network,focusing on genes with weak node information to represent specific cancer information.From these functional features,we extract distribution features of pan-cancer data,pan-cancer TOPSIS features of functional features using the ideal solution method,and SetExpan features of pan-cancer data from the gene functional features,a method to rank pan-cancer data based on the average inverse rank.These features represent the common message of pan-cancer.Finally,we use the lightGBM classification algorithm for gene prediction.Experimental results show that our method outperforms existing methods in terms of the area under the check precision-recall curve(AUPRC)and demonstrates better performance across different PPI networks.This indicates our framework’s effectiveness in predicting potential cancer genes,offering valuable insights for the diagnosis and treatment of tumors.

Survival of Pseudomonas fluorescence X16(luxAB)Strain in Soils Accumulated with Mixed Rare Earth Elements

Rare earth elements(REE)are applied as micro-fertilizer in large scale in China and there is growing concern about the environmental effects of REE accumulation in soils. Accumulation of REE was simulated in lab by adding REE to three soils and the survival of Pseudomonas fluorescence X16 strain marked with luxAB gene in soils was detected. Curvilinear regression method was applied to analyze the survival pattern. The stimulation values, EC_(50) and NOEC values for X16 strain were calculated to compare the toxic intensity of REE in different soils. The stimulation(peak)values in red soil, yellow fluovo-aquic soil and yellow cinnamon soil, are 11.55～18.08,(0～2.13), 2.37～4.62 mg·kg^(-1) , respectively. EC_(50) values are 13.47～39.12, 6.59～56.18, 372～1034 (mg·kg^(-1)), respectively.NOEC values are 5.62 ～21.41, 0.00～4.53, 133.3～327.1 mg·kg^(-1), respectively. Tangents values of regression equation of the survival of X16 strain in red soil are the maximum ones indicating that REE accumulation in red soil has stronger inhibitory effects than in other two soils. The soil order, reflecting toxic intensity of REE is as follows: red soil>yellow fluovic-aquic soil>yellow cinnamon soil.

视黄酸刺激RARE调控荧光素酶报告基因表达系统的构建与应用

类维生素A,通过视黄酸(retinoic acid,RA)代谢旺盛组织的靶基因调控,与生物节律通路相互作用,在代谢性疾病发展过程中发挥着重要作用。在293T及小鼠肝原代细胞中,构建视黄酸反应元件(RARE)调控的荧光素酶报告基因表达系统,为研究类维生素A与节律和代谢研究中靶基因上游调控信号分子提供可能。用定点突变PCR方法在p GL3-Basic载体中插入RARE片段,检测报告基因表达及RARE对视黄酸响应的半数有效浓度(EC50),初步筛选可能调控RARE的靶基因,通过酶切连接将荧光素酶报告基因Luciferase和启动子RARE片段构入穿梭载体p Shuttle,转入感受态细胞BJ518获得重组腺病毒载体Ad-BasicRARE-Luc,转染MGH细胞并进行扩增,在小鼠肝原代细胞检测腺病毒活性。结果显示,构建的RARE调控的荧光素酶报告基因表达载体在293T细胞可被RA刺激,RARβ促进RA刺激RARE表达,而CRY1抑制RARE-Luc对RA的响应,并成功构建了在小鼠肝原代细胞响应RA刺激的Adeasy-Basic-RARE-Luc腺病毒载体。

DGMP: Identifying Cancer Driver Genes by Jointing DGCN and MLP from Multi-omics Genomic Data

Identification of cancer driver genes plays an important role in precision oncology research,which is helpful to understand cancer initiation and progression.However,most existing computational methods mainly used the protein–protein interaction(PPI)networks,or treated the directed gene regulatory networks(GRNs)as the undirected gene–gene association networks to identify the cancer driver genes,which will lose the unique structure regulatory information in the directed GRNs,and then affect the outcome of the cancer driver gene identification.Here,based on the multi-omics pan-cancer data(i.e.,gene expression,mutation,copy number variation,and DNA methylation),we propose a novel method(called DGMP)to identify cancer driver genes by jointing directed graph convolutional network(DGCN)and multilayer perceptron(MLP).DGMP learns the multi-omics features of genes as well as the topological structure features in GRN with the DGCN model and uses MLP to weigh more on gene features for mitigating the bias toward the graph topological features in the DGCN learning process.The results on three GRNs show that DGMP outperforms other existing state-of-the-art methods.The ablation experimental results on the Dawn Net network indicate that introducing MLP into DGCN can offset the performance degradation of DGCN,and jointing MLP and DGCN can effectively improve the performance of identifying cancer driver genes.DGMP can identify not only the highly mutated cancer driver genes but also the driver genes harboring other kinds of alterations(e.g.,differential expression and aberrant DNA methylation)or genes involved in GRNs with other cancer genes.The source code of DGMP can be freely downloaded from https://github.com/NWPU-903PR/DGMP.

C^3:Consensus Cancer Driver Gene Caller

Next-generation sequencing has allowed identification of millions of somatic mutations in human cancer cells.A key challenge in interpreting cancer genomes is to distinguish drivers of cancer development among available genetic mutations.To address this issue,we present the first webbased application,consensus cancer driver gene caller(C^3),to identify the consensus driver genes using six different complementary strategies,i.e.,frequency-based,machine learning-based,functional bias-based,clustering-based,statistics model-based,and network-based strategies.This application allows users to specify customized operations when calling driver genes,and provides solid statistical evaluations and interpretable visualizations on the integration results.C^3 is implemented in Python and is freely available for public use at http://drivergene.rwebox.com/c3.

密码子优化和信号肽对猪圆环病毒ORF2基因在毕赤酵母表达中的影响

为了在毕赤酵母中高效表达PCV2ORF2基因,对PCV2ORF2基因编码的187个氨基酸密码子进行毕赤酵母偏爱性优化,利用两步PCR全化学合成优化后的ORF2基因。将优化前后的PCV2ORF2基因片段插入毕赤酵母表达载体pPICZα-C,构建重组质粒pPICZα-C-ORF2和p PICZα-C-ORF2op。将线性化的重组质粒电转化毕赤酵母GS115,并筛选Zeocin抗性重组子。同时,也研究了信号肽对PCV2ORF2表达效率的影响。SDS-PAGE和Western-blot分析结果表明,只有经密码子优化且去除ORF2基因自身信号肽的重组子能够分泌表达PCV2 ORF2蛋白,目的蛋白分子质量约为30 ku,表达的重组ORF2蛋白可被PCV2阳性血清识别,具有生物学活性。

安罗替尼联合多西他赛治疗驱动基因阴性晚期非小细胞肺癌的临床疗效研究

目的 探究非小细胞肺癌治疗中安罗替尼与多西他赛联合的作用。方法 选取吉林省肿瘤医院于2022年6月—2023年7月收治的120例非小细胞肺癌患者为研究对象,采用随机摸球法分为两组,各60例。对照组使用多西他赛治疗,研究组联用多西他赛和安罗替尼治疗。对比两组临床疗效、上皮特异性黏附分子(Epithelial Cell Adhesion Molecule, EP-CAM)、可溶性细胞间黏附分子-1(Soluble Intercellular Adhesion Molecule-1, SICAM1)、血清细胞黏附分子(Cellular Adhesion Molecule, CAM)水平及不良反应发生率。结果 研究组的疾病缓解率为43.33%,高于对照组的21.67%,差异有统计学意义(χ^(2)=6.419,P=0.011)。治疗后,研究组EP-CAM、SICAM1、CAM水平低于对照组,差异有统计学意义(P均<0.05)。研究组不良反应发生率低于对照组,差异有统计学意义(P<0.05)。结论 安罗替尼联合多西他赛治疗驱动基因阴性非小细胞肺癌能够降低肿瘤标志物,且有助于降低不良反应发生风险。

1例罕见α-地中海贫血产前诊断与家系分子遗传学分析

目的 对1例疑似携带罕见地中海贫血(简称地贫)的产前诊断胎儿进一步测序分析,对先证者进行家系分子遗传学分析。方法 运用血常规和血红蛋白电泳进行地贫筛查,采用gap-PCR法和PCR-RDB法检测24种地贫突变,对疑似罕见地贫进行基因测序分析。结果 先证者为--~(SEA)地贫与α2基因IVS-Ⅱ-119地贫双重杂合子,其IVS-Ⅱ-119地贫基因遗传自母方,--~(SEA)地贫基因遗传自父方。结论 --~(SEA)/α~(IVS-Ⅱ-119)α HbH地贫患儿的诊断,为罕见地贫的遗传咨询和产前诊断提供科学理论依据。

表现为大量蛋白尿的儿童Dent病一例

本文报道1例表现为大量蛋白尿的Dent病患儿诊疗过程。患儿男性,3岁1个月,常规体检时发现有大量蛋白尿,无低白蛋白血症,尿蛋白电泳提示以小分子量蛋白为主,同时伴高钙尿症,有阴离子间隙正常的代谢性酸中毒,无糖尿,无氨基酸尿,肾脏超声未见肾脏钙质沉着。患儿无生长发育落后及肾脏疾病家族史。完善全外显子组基因检测到OCRL1基因第15号外显子存在1处错义变异c.1477C>T(p.Arg493Trp)。诊断Dent病明确后,限制高钙、高钠及高草酸盐饮食摄入,同时加用枸橼酸钾颗粒及氢氯噻嗪口服。目前随访2个月,尿钙水平下降,肾功能稳定。本文通过典型病例报道及既往文献回顾,以期提高临床医师对该疾病的认识,并为该疾病的诊治提供借鉴。

SIL1基因变异所致常染色体隐性Marinesco-Sj?gren综合征2例

Marinesco-Sj gren综合征(MSS)是一种罕见的常染色体隐性遗传病,以小脑共济失调、早发型白内障、慢性肌病、不同程度的智力残疾和运动发育迟缓为特征。患者还可表现出身材矮小、促性腺激素过低和肌肉无力导致的骨骼畸形等症状。本文报道2例表现为全面发育迟缓的MSS患儿临床与分子诊断过程,分别检出SIL1基因复合杂合致病变异c.109delG(p.Glu37Serfs*4)、意义未明变异c.353G>C(p.Arg118Thr)和c.443delA(p.Lys148Argfs*10)、可能致病变异c.707A>G(p.Asn236Ser)。明确分子诊断后,予以遗传咨询,评估患儿父母再生育风险。本文通过典型病例报道及既往文献回顾,以期提高临床医生对该疾病的认识,并为该病的诊断提供借鉴。

驱动基因阴性非小细胞肺癌二线治疗中国专家共识

对于驱动基因阴性的晚期非小细胞肺癌(non-small cell lung cancer,NSCLC)患者而言,既往化疗一直都是标准治疗选择,而免疫检查点抑制剂(immune checkpoint inhibitors,ICIs)的加入为这部分患者提供了新的治疗选择。目前一线治疗可以选择化疗、抗血管生成药物或免疫治疗。尽管初始治疗能获得一定的有效率,但仍不可避免地会出现疾病进展或治疗失败,二线及以上治疗疗效差,患者预后不佳,临床上需要更多有效的二线治疗药物。中国临床肿瘤学会非小细胞肺癌专家委员会组织呼吸科、肿瘤科、病理科专家对驱动基因阴性人群临床研究证据进行了深入探讨,根据专家组讨论后广泛认可的临床诊疗经验,对驱动基因阴性NSCLC患者二线治疗制定了统一的专家共识,可作为中国临床医师选择驱动基因阴性NSCLC二线治疗的指导依据。

河南豫东地区661例非小细胞肺癌常见驱动基因突变分析

目的分析河南豫东地区非小细胞肺癌(non-small cell lung cancers,NSCLC)患者常见驱动基因的突变情况。方法回顾性分析2022年3月至2023年7月就诊于商丘市第一人民医院的661例NSCLC患者,入组病例均采用了5种基因突变检测试剂盒(荧光PCR法)进行检测。应用统计学方法分析其临床特征与各驱动基因状态之间的关系。结果661例NSCLC中EGFR、KRAS、ALK、ROS1、PIK3CA、BRAF、HER2、RET、MET14和NRAS的突变率分别为47.35%、9.68%、5.45%、1.82%、2.87%、1.82%、1.21%、0.91%、0.61%和0%。EGFR、ROS1和HER2的突变更易发生在在女性患者中(P<0.05),而KRAS突变常发生于男性患者(P<0.05)。EGFR、KRAS和ALK突变在腺癌中的突变率显著高于鳞癌和非小细胞肺癌非特指型(NSCLC.NOS)(P<0.05),PIK3CA在NSCLC.NOS中的突变率最高。KRAS基因在Ⅰ+Ⅱ期的突变率显著高于Ⅲ+Ⅳ期(P<0.05),其他基因与临床分期无明显相关性。与吸烟者相比,非吸烟者的总驱动基因突变率明显较高(P<0.05),EGFR、ALK、PIK3CA、ROS1、BRAF和HER2常发生于非吸烟患者中(P<0.05),而KRAS基因更易发生于吸烟患者中(P<0.05)。沉渣细胞块标本10种驱动基因突变率78.67%,检出率显著高于其他类型标本(P<0.05)。结论EGFR、KRAS、ALK等常见驱动基因与患者性别、病理类型、临床分期以及吸烟具有一定的相关性。质控合格的沉渣细胞块标本用于基因检测的优势明显,可以在有条件的患者中广泛推广;ARMS-PCR法联合检测10种基因可作为初诊初治NSCLC患者的首选基因检测方法。

PD-1抑制剂联合一线化疗方案对晚期驱动基因阴性肺腺癌的效果及安全性分析

目的探讨程序性细胞死亡蛋白-1(PD-1)抑制剂联合一线化疗方案治疗晚期驱动基因阴性肺腺癌的效果及安全性。方法回顾性收集2019年1月至2021年12月收治的60例晚期驱动基因阴性的肺腺癌患者病历资料,依据治疗方式不同分组,将30例接受培美曲塞、顺铂联合PD-1抑制剂(信迪利单抗)治疗的病历资料纳入观察组另30例接受培美曲塞联合顺铂治疗的病历资料纳入对照组。对比2组患者治疗前、治疗30 d时2组临床疗效[客观缓解率(ORR)、疾病控制率(DCR)]、免疫功能[CD_(4)^(+)、CD_(8)^(+)、CD_(4)^(+)/CD_(8)^(+)]、肿瘤标志物[癌胚抗原(CEA)、细胞角蛋白19片段(CYFRA21-1)]、不良反应[恶心、粒细胞减少、肝功能异常、甲状腺功能异常、肺炎、皮疹、血小板降低]。结果观察组ORR显著高于对照组,差异有统计学意义(P<0.05);2组DCR比较差异无统计学意义(P>0.05);治疗后,观察组CD_(4)^(+)、CD_(4)^(+)/CD_(8)^(+)水平高于治疗前,且高于对照组(P<0.05);治疗后,2组CYFRA21-1、CEA水平均下降,且观察组低于对照组(P<0.05)。观察组甲状腺功能异常、肺炎、皮疹等发生例数显著多于对照组,差异有统计学意义(P<0.05)。结论PD-1抑制剂联合化疗一线治疗可有效改善晚期驱动基因阴性肺腺癌患者免疫功能,并降低肿瘤标志物水平,疗效确切。

Effects of Cerium on Accumulation of Anthocyanins and Expression of Anthocyanin Biosynthetic Genes in Potato Cell Tissue Cultures

The effects of Ce （Ⅳ） on callus growth, anthocyanin content, and expression of anthocyanin biosynthetic genes in callus suspension cultures of Solanum tuberosum cv. Chieftain were studied by the measurement of fresh weight, spectrophotometric assays, and semiquantitative RT-PCR. The results indicate that 0.1 mmol·L^- 1 Ce （ Ⅳ ） can promote callus growth, increase the accumulation of anthocyanins, and enhance the expression of five anthocyanin biosynthetic genes （ CHS, F3H, F3＇5＇H, DFR, and 3 GT） most efficiently. At high concentrations of 1 mmol·L^- 1, Ce （Ⅳ） partially inhibits callus growth and at 2 mmol· L^-1 eventually lends to cell death. The results show that Ce（ Ⅳ ） can induce the expression of anthocyanin biosynthetic genes to produce and accumulate anthocyanins and increase the yield of anthocyanins.

Effect of Long-Term Intake of Y^(3+) in Drinking Water on Gene Expression in Brains of Rats

The rats were fed with water dissolved Y^3＋ at different levels （0, 53.4, 5340 mg·L^-1） for 7 months. The gene expression in brain tissue was detected with oligonucleotide microarray. The results show that, compared to the control, 789 genes express differentially, 507 over-expressed genes and 282 under-expressed genes in the high-dose group （5340 mg· L^-1）, of which, most were related to cell receptor, cell signal and transmission, and ionic passage. 44 genes were found to express differentially including 32 over-expressed genes and 12 under-expressed genes in the low-dose group （53. 40 mg· L^-1）, of which, most were related to cell skeleton and movement, immunity, and DNA binding protein. These resuits suggest that Y^3. can change the expression of some genes, which may be responsible for the toxicity of rare earths on learning and memory.

原发性血小板增多症患者中JAK2、CALR及三阴性驱动突变的临床特征比较

目的:探讨原发性血小板增多症(ET)患者的突变基因与临床特征的关系。方法:对2018年10月至2022年3月69例ET患者的临床资料进行回顾性分析。将患者按突变的驱动基因类型分为JAK2组、CALR组与三阴性组,对3组患者的性别、年龄、心血管危险因素、血栓、脾肿大、血常规、凝血状态进行分析。结果:69例ET患者中,46例伴随JAK2基因突变,14例伴随CALR基因突变,8例为三阴性,1例伴随MPL基因突变。3组患者的年龄、性别无显著差异(P>0.05)。JAK2组血栓率最高,为26.09%(12/46),三阴性组为12.5%(1/8),CALR组无血栓事件。JAK2组伴随脾肿大发生率最高,为34.78%(16/46),而三阴性组无脾肿大发生。JAK2组的白细胞数为(9.00±4.86)×10^(9)/L,显著高于CALR组的(6.03±2.32)×10^(9)/L(P<0.05)。JAK2组的血红蛋白含量为(148.43±18.79)g/L,显著高于三阴性组的(131.00±15.17)g/L(P<0.05)。JAK2组的红细胞压积为(0.44±0.06)%,亦显著高于三阴性组的(0.39±0.05)%(P<0.05)。JAK2组血小板数为(584.17±175.77)×10^(9)/L,显著低于CALR组的(703.07±225.60)×10^(9)/L(P<0.05)。JAK2组和三阴性组纤维蛋白原含量分别为(2.64±0.69)g/L和(3.05±0.77)g/L,均显著高于CALR组的(2.24±0.47)g/L(P<0.05,P<0.01)。三阴性组活化部分凝血活酶时间为(28.61±1.99)s,较CALR组的(31.45±3.35)s显著降低(P<0.05)。结论:不同驱动基因突变ET患者的血细胞计数与凝血状态存在差异。与CALR组相比,JAK2组血栓率、白细胞数和纤维蛋白原含量均显著升高,而血小板数显著降低;与三阴性组相比,JAK2组脾大发生率和红细胞压积显著升高;与CALR组相比,三阴性组的纤维蛋白原含量显著升高、活化部分凝血活酶时间显著降低。

不同标本类型在非小细胞肺癌基因检测中的应用及意义

目的研究分析不同标本类型在非小细胞肺癌(NSCLC)患者的驱动基因检出率,并分析表皮生长因子受体(EGFR)、间变性淋巴瘤激酶(ALK)、C-ros原癌基因1-受体酪氨酸激酶(ROS1)、Kristen鼠肉瘤病毒原癌基因同源体(KRAS)、鼠类肉瘤滤过性毒菌致癌基因同源体B(BRAF)等驱动基因异常情况及与临床病理特征关系。方法收集2021年1月—2021年12月我院病理科明确诊断为NSCLC样本180例,包括手术切除标本25例,肺活检标本80例,恶性胸腔积液细胞蜡块标本29例,转移病灶标本46例,采用扩增阻滞突变系统(ARMS)法检测驱动基因突变状态。结果5种驱动基因的总突变率为53.33%(96/180),驱动基因突变可在不同标本类型中检出,不同标本间突变率比较差异无统计学意义(P>0.05)。EGFR基因突变率40.56%(73/180),性别及组织类型突变率比较差异有统计学意义(P<0.05),年龄类型突变率比较差异无统计学意义(P>0.05);KRAS基因突变率6.11%(11/180),其中性别类型突变率比较差异有统计学意义(P<0.05),年龄与组织类型突变率比较差异无统计学意义(P>0.05);ALK融合基因突变率4.44/%(8/180),年龄、性别及组织类型突变率比较差异无统计学意义(P>0.05);BRAF基因突变率1.11%(2/180),ROS1融合基因突变率1.11%(2/180)。结论不同标本类型均可检出驱动基因,增加了临床基因检测的取样途径。NSCLC患者EGFR基因突变率明显高于其他驱动基因,EGFR基因突变与患者性别及组织类型有差异,KRAS基因突变与患者性别有差异;ALK、ROS1、BRAF基因突变率较低,但指导NSCLC治疗有重要意义。多基因联合检测可一次获取更多驱动基因突变信息,能够更快、更全面地指导临床治疗。