一例双侧肾透明细胞癌患者与家系成员VHL基因的胚系突变分析  

Germline Mutation Analysis of VHL Gene in a Case of Bilateral Clear Cell Renal Cell Carcinoma and Family Members

作　　者：施爱军[1] 吴剑秋 尹娜[2] 吴晓柳[2] 康铮[2] SHI Ai-jun;WU Jian-qiu;YIN Na;WU Xiao-liu;KANG Zhen(Department of Laboratory Medicine,Rudong County Hospital of Traditional Chinese Medicine,Jiangsu Rudong 226400,China;Jiangsu Cancer Hospital&Jiangsu Institute of Cancer Research&the Affiliated Cancer Hospital of Nanjing Medical University,Nanjing 210009,China)

机构地区：[1]南通市如东县中医院检验科,江苏如东226400 [2]江苏省肿瘤医院&江苏省肿瘤防治研究所&南京医科大学附属肿瘤医院,南京210009

出　　处：《现代检验医学杂志》2021年第2期35-38,共4页Journal of Modern Laboratory Medicine

基　　金：江苏省卫生健康委基金(H2019100);江苏省卫生健康委保健局基金(BJ190323)。

摘　　要：目的对一例家族性双侧肾透明细胞癌患者家系VHL基因的胚系突变进行分析,结合其临床特点探讨可能的分子遗传学发病机制。方法收集病人家族史、影像学、入院诊疗和随访资料,提取患者及家系直系成员外周血DNA和RNA,采用PCR-DNA测序、荧光定量PCR,RT-PCR片段长度和序列分析等方法进行VHL基因病理性胚系突变位点的筛查和验证。结果PCR-DNA测序分析结果显示在这家系成员中均没有发现VHL基因编码区的点突变;VHL基因外显子拷贝数的定量分析数据显示VHL基因外显子2拷贝数减少;RT-PCR产物电泳和测序结果表明先证者与其兄二人存在VHL基因第2外显子杂合性缺失所致的病理性胚系突变。结论家族性肾细胞癌家系中VHL基因的胚系突变筛查可作为一种有效的手段预测患者的预后,并可指导临床。Objective This article analyzes the germline mutation of VHL gene in a family of a patient with familial bilateral clear cell renal cell carcinoma,and discusses the possible molecular genetic pathogenesis based on its clinical characteristics.Methods Collected the patient’s family history,imaging,hospital admission and follow-up data,extract the peripheral blood DNA and RNA of the patient and family members,and use PCR-DNA sequencing,fluorescent quantitative PCR,RT-PCR fragment length and sequence analysis to analyze the VHL gene Screening and verification of pathological germline mutation sites.Results PCR-DNA sequencing analysis results showed that no point mutation in the coding region of the VHL gene was found in the members of this family.The quantitative analysis data of the VHL gene exon copy number showed that the VHL gene exon 2 copy number was reduced.RT-PCR product the results of electrophoresis and sequencing showed that the proband and his brother had pathological germline mutations caused by the loss of heterozygosity in the second exon of the VHL gene.Conclusion The germline mutation screening of VHL gene in familial renal cell carcinoma families can be used as an effective method to predict the prognosis of patients and guide clinical practice.

关 键 词：家族性肾细胞癌 VHL基因 胚系突变 

分 类 号：R737.11[医药卫生—肿瘤] R730.43[医药卫生—临床医学]