摘要
目的探讨外周血循环肿瘤DNA(ctDNA)中TP53基因位点突变检测在盆腔良、恶性肿瘤诊断中的意义。方法15例盆腔肿瘤患者中,良性肿瘤6例,恶性肿瘤9例。基于肿瘤中体细胞突变目录数据库及文献报道选取TP53基因潜在的3个突变位点,并运用目标区域测序技术检测盆腔良、恶性肿瘤患者外周血ctDNA中这3个位点的突变情况,对比突变率差异。结果恶性肿瘤患者外周血ctDNA中TP53基因COSM10648位点突变率高于良性肿瘤患者(P<0.05),但两者间TP53基因COSM10660和COSM10758位点突变率均无统计学差异(P>0.05)。结论外周血ctDNA中TP53基因COSM10648位点突变可能是盆腔恶性肿瘤的特异性标志;ctDNA检测与常规血清学、影像学等检查相结合,可有效提高鉴别盆腔良、恶性肿瘤的灵敏度和准确性。
Objective To invesigate the clinical significance of TP53 gene mutation detection in circulating tumor DNA(ctDNA)of peripheral blood in the diagnosis of benign and malignant pelvic tumor.Methods Of 15 patients with pelvic tumor,6 cases were with benign tumor and 9 cases were with malignant tumor.Three potential mutation sites of TP53 gene were screened out on the basis of Catalogue of Somatic Mutations in Cancer database and previous reports,and the mutation frequencies of these sites in ctDNA of peripheral blood in the patients with benign and malignant pelvic tumor were determined and compared by next generation sequencing.Results The mutation frequency of TP53 gene at COSM10648 site in ctDNA of peripheral blood in the patients with malignant tumor was higher than that in the patients with benign tumor(P<0.05).There was no statistical difference in the mutation frequencies of TP53 gene at COSM10660 and COSM10758 sites between the patients with benign and malignant tumor(P>0.05).Conclusion TP53 gene mutation at COSM10648 site in ctDNA of peripheral blood might be a specific biomarker of malignant pelvic tumor.The combination of ctDNA detection with conventional serology and imageology examinations could effectively improve the sensitivity and accuracy of differential diagnosis of benign and malignant pelvic tumor.
作者
王宁宁
黎群
卢锦
胡东东
王金华
WANG Ningning;LI Qun;LU Jin(Department of Gynecology,First Peopled Hospital of Lianyungang,Lianyungang 222003,CHINA)
出处
《江苏医药》
CAS
2021年第1期17-21,共5页
Jiangsu Medical Journal
基金
江苏省妇幼健康科研项目(F201706)。
