Urothelial Tumor Risk Genes Detection With Genetron Uro V1 and LC-WGS

Overview

Genetron Uro V1 perform mutation detection of 17 genes and methylation detection of 1 gene by using urine samples and tumor tissue samples. It is a urine liquid biopsy method that has a great supplementary effect on the existing clinical differential diagnosis technology. The main aim of this study is to compare the test results of Genetron Uro V1 with the standard clinical diagnosis results, and analyze the performance of Genetron Uro V1 in the diagnosis and recurrence diagnosis of urothelial carcinoma.

The current diagnosis of urothelial carcinoma is mainly based on imaging examination, urine examination and endoscopy. Imaging examinations include ultrasound, CT, MRI, etc., which have limited clinical value when used alone, and are difficult to meet the demand for qualitative research on tumors. The current common methods are urine exfoliated cytology and fluorescence in situ hybridization (FISH). Urine exfoliative cytology is one of the main methods for diagnosis of urothelial cancer and follow-up after surgery. But the sensitivity of urine exfoliated cytology is about 13%-75%, and the specificity is 85%-100%. FISH can detect chromosomal abnormalities in urine exfoliated cells, and combined with urine exfoliated cytology can greatly improve the sensitivity of diagnosis, but the increased cost of multiple examination methods limits its use in diagnosis and each postoperative follow-up. Endoscopy includes cystoscopy and ureteroscopy. Cystoscopy is the most reliable way to diagnose bladder cancer, and some patients with upper urinary tract urothelial cancer also have bladder cancer. Therefore, cystoscopy is almost the "gold standard" method for the diagnosis of urothelial cancer. For most upper urinary tract urothelial cancers, ureteroscopic biopsy is the only method that can be used to pathological diagnosis before surgical resection. However, endoscopy is an invasive examination, which will cause additional pain and complications to the patient, and the resulting local adhesions or trauma will also increase the risk of postoperative recurrence. The characteristics of urothelial cancer are prone to recurrence. Therefore, there are strict follow-up time and standards after surgery. Endoscopy examination is required every three months or six months, which also increases the pain and expense of patients. Based on the above considerations, finding an accurate, non-destructive and economical urine biopsy diagnosis method is an urgent problem in the clinical research of urothelial cancer. Genetron Uro V1 has sensitivity, specificity, and NPV of the pre-diagnostic test for upper urinary tract urothelial carcinoma reached 92.2%, 91.9%, and 94.1%, respectively. Another urine biopsy method based on low-coverage whole-genome sequencing to detect copy number variation (CNV) in patients with urothelial tumors reported its application performance in the diagnosis of urothelial cancer, and its total sensitivity and specificity reached 80.4% and 94.9%, respectively. This project is to optimize new liquid biopsy methods (Genetron Uro V1 and LC-WGS)that will bring greater benefits to the clinic through more standard and larger clinical trials.

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