Preliminary Study Of Parallel Sequencing Of Cell-free DNA In Plasma In Screening Gynecological Malignant Tumors

Objective:Gynecological cancer seriously threat to women’s life safety in the world.The three common gynecological tumors include:cervical cancer,endometrial cancer and ovarian cancer.In recent years,in addition to the cervical cancer screening with relative specification and prevention measures,endometrial cancer and ovarian cancer are lacking of a simple,convenient and noninvasive screening method in screening.The prognosis of tumor patient are closely associated with the tumor stage,so we expect an enough early identification and screening for cancer patients,to improve the survival of cancer patients life and quality of life.Heterogeneity and Chromosomal Instability;CIN is a common feature of malignant cells,which can cause different chromosomal abnormalities in different cells in the same tumor,including numerical abnormalities(such as aneuploidy,aneuploidy,etc.)and structural abnormalities(such as deletion,duplication,translocation,etc.).There is a small amount of cell-free circulating tumor DNA in peripheral blood of patients with malignant tumor.ctDNA).Causes of chromosome abnormality in tumor cells derived from the corresponding abnormal chromosome or chromosome fragments ctDNA number,the number of abnormal ctDNA can lead to a corresponding chromosome or chromosome fragments sources the number of peripheral blood free DNA is unusual,cause multiple chromosomal aneuploidies(MCA).Next generation sequencing,NGS can detect this kind of exogenous DNA free number the number of peripheral blood free DNA caused abnormal exceptions,and has set up a fetal aneuploidy in Noninvasive Prenatal Testing,NIPT has been widely applied.This study on patients with gynecological malignant peripheral blood plasma free for Next generation sequencing,and use the sequencing algorithm based on NIPT analysis data,the research can detect gynecologic tumor patients plasma free DNA is MCA,for the future development of a new noninvasive gynecologic malignant tumor screening and curative effect of monitoring provides research methods and preliminary experimental data.Method:Selection in October 2021-December 2022 in Zhongshan Boai hospital inspection of 100 suspected tubal cancer,endometrial cancer,cervical cancer,ovarian cancer patients,such as collecting the blood samples and surgery in patients with tumor tissue pathology biopsy samples.Peripheral blood collected 100 cases of normal women as control at the same time.The clinical and pathological diagnosis of 19 cases of malignancy,border tumors in 1 case,separation of the peripheral blood plasma of free and high-throughput DNA sequencing,then the sequencing data according to the algorithm of NIPT screening for fetal aneuploidy is analyzed,and 20 cases of tumor patients with tumor tissue DNA sequencing CNV-seq,screening NIPT technology to detect whether the variation of derived from tumor cells,and 7 patients with tumor cells to carry on the CNV-seq sequencing,the last follow-up for patients survival situation.Results:1,this research through the NIPT platform plasma in patients with gynaecological tumor free for high-throughput DNA sequencing detection,MCA total positive detection rate was 35%.2,in patients with advanced malignant tumor,MCA positive rate is high,but the MCA in patients with early detection rate is low.3,This study patients blood CNV-Seq detection and NIPT are not found in the same mutation in the chromosome abnormality.To infer the chromosome mutation in the plasma free DNA tests and CNV from cancer cells rather than the patient’s own carry.4,This study found that patients with tumor positive detection rate and tumor tissue classification may have nothing to do with it.