摘要
目的探讨宫颈癌早期诊断中运用高通量测序技术的临床价值。方法选择收治的45例宫颈癌患者为研究对象,通过采集宫颈脱落细胞、提取DNA,运用高通量测序技术对宫颈脱落细胞基因组进行测序,检测PIK3CA等与宫颈癌发生相关的基因突变情况,并且结合TCGA、COSMIC数据库信息判读宫颈脱落细胞的基因突变情况。结果45例宫颈癌患者中,42例患者检出基因突变,检出率为93.33%,鉴定出的突变基因共160个,其中PIK3CA占有较高的比例,其次为RB1、AKT2以及FAT1等。宫颈癌患者的基因突变类型包括拷贝数变异、插入缺失突变、移码突变、无义突变以及错义突变等,其中比较常见的是拷贝数变异和错义突变。同时,PIK3CA基因突变与患者的分化程度有关(P<0.05),但是与有无高危型HPV感染、淋巴结转移、组织学类型、临床分期、肿瘤大小以及年龄等因素无关(P>0.05)。结论宫颈癌患者中普遍存在基因突变,主要为多基因突变,其中PIK3CA是比较常见的一种突变基因,其信号通路以PI3K-AKT信号通路为主,并且运用高通量测序技术,能够及时发现新的一些基因突变,为早期诊断宫颈癌奠定理论基础。
Objective To investigate the clinical value of high-throughput sequencing in an early diagnosis of cervical cancers.Methods A total of 45 cervical cancer patients admitted to hospital were selected as the research objects.Cervical exfoliated cells were collected for DNA extraction and high-through sequencing.Gene mutations in cervical exfoliated cells of cervical cancer patients were detected,and relevant mutation data were searched in The Cancer Genome Atlas(TCGA)and Catalogue Of Somatic Mutations In Cancer(COSMIC)databases.Results Totally 42 out of 45(93.33%)cervical cancer patients carried gene mutations.A total of 160 mutant genes were identified in cervical cancer patients,with the majority of PIK3CA gene mutations,followed by Rb1,AKT2 and FAT1 gene mutations.Classified by the type of gene mutations,we detected copy number mutation,insertion deletion mutation,frameshift mutation,nonsense mutation and missense mutation in cervical cancer patients,with copy number mutation and missense mutation dominantly.Meanwhile,PIK3CA gene mutation was significantly correlated with the differentiation degree of cervical cancer(P<0.05),but not correlated with high-risk HPV infection,lymph node metastasis,histological type,clinical stage,tumor size and age(P>0.05).Conclusion Gene mutations,especially polygenic mutations,are common in cervical cancer patients.PIK3CA is a common mutant gene detected in cervical cancer,with the major involvement of the PI3K-Akt signaling pathway.The use of high-throughput sequencing is able to identify novel gene mutations,providing a theoretical foundation for an early diagnosis of cervical cancers.
作者
梁磊
孙莉
杨波
吴园园
LIANG Lei;SUN Li;YANG Bo(Department of Obstetrics and Gynecology,980 Hospital of the PLA JLSF,Hebei,Shijiazhuang 050082,China)
出处
《河北医药》
CAS
2024年第17期2634-2637,共4页
Hebei Medical Journal
基金
河北省医学科学研究重点课题计划(编号:20210128)。
关键词
宫颈癌
高通量测序技术
基因突变
cervical cancer
high-throughput sequencing technology
gene mutation
