Brief Title
Urothelial Tumor Risk Genes Detection With Genetron Uro V1
Official Title
A Study of the Urine Non-invasive Liquid Biopsy in Diagnosis and Recurrence Diagnosis of Urothelial Carcinoma
Brief Summary
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.
Detailed Description
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.
Study Type
Observational
Primary Outcome
Sensitivity
Condition
Urothelial Carcinoma
Intervention
Observational study only - no intervention
Study Arms / Comparison Groups
Diagnosis group of patients with urothelial cancer
Description: Patients with painless intermittent gross hematuria during outpatient/emergency/hospitalization diagnose as urothelial carcinoma in this study will be assigned to this group
Publications
* Includes publications given by the data provider as well as publications identified by National Clinical Trials Identifier (NCT ID) in Medline.
Recruitment Information
Recruitment Status
Other
Estimated Enrollment
970
Start Date
April 2022
Completion Date
August 2024
Primary Completion Date
August 2023
Eligibility Criteria
Inclusion Criteria:
Diagnosis Group：
1. Randomly enrolled hematuria patients in outpatient/emergency/inpatient care
2. Gender is not limited
3. Age ≥18 years old
4. Able to provide 100ml urine sample before cystoscopy
5. At the same time, the following requirements still need to be met:
1) Agree to provide personal basic clinical information, pathology and imaging data for
scientific research, and sign scientific research-related informed consent 2) Agree to
conduct genetic testing services involved in the trial
Recurrence diagnosis group:
1. A patient diagnosed with non-muscular invasive urothelial carcinoma within two years of
enrollment 2. Follow the guidelines for routine recurrence monitoring standard programs 3.
No gender limit 4. Age ≥18 years old 5. All urothelial tumors have been surgically removed
6. Agree to perform cystoscopy and urine exfoliation cytology for each recurrence
monitoring 7. At the same time, the following requirements still need to be met:
1. Agree to provide personal basic clinical information, pathology and imaging data for
scientific research, and sign scientific research-related informed consent; agree to
conduct genetic testing services involved in the trial
2. Agree to conduct genetic testing services involved in the experiment -
Exclusion Criteria:
Diagnosis group:
1. Patients with other non-urothelial malignancies (including prostate cancer and renal
cell carcinoma)
2. Patients with secondary urothelial tumors
3. Patients who cannot undergo cystoscopy and urine exfoliative cytology
4. Samples with incomplete pathological information, and samples with positive case
information that cannot clarify the pathological results and tumor staging
5. Contaminated samples
6. Patients whose urine samples fail to pass the quality control due to reasonable
reasons and cannot be sampled again
7. Samples that cannot be tested due to reasonable reasons
8. The researcher believes that there are any conditions that may harm the subject or
cause the subject to fail to meet or perform the research requirements
9. Patients who cannot provide written informed consent
Recurrence diagnosis group:
1. Patients with other non-urothelial malignancies (including prostate cancer and renal
cell carcinoma)
2. Patients who cannot undergo cystoscopy and urine exfoliative cytology
3. Patients planning to undergo cystectomy/neoadjuvant chemotherapy/radiotherapy
4. Patients who have been enrolled at the pre-recurrence monitoring time point
5. Samples with incomplete pathological information, samples for which the information of
positive cases cannot clarify the pathological results and tumor staging
6. Contaminated samples
7. Patients whose urine samples fail to pass the quality control due to reasonable
reasons and cannot be sampled again
8. Samples that cannot be tested due to reasonable reasons
9. The researcher believes that there are any conditions that may harm the subject or
cause the subject to fail to meet or perform the research requirements
10. Patients who cannot provide written informed consent
Gender
All
Ages
18 Years - N/A
Accepts Healthy Volunteers
No
Contacts
Danfeng Xu, 021-64370045, [email protected]
Location Countries
China
Location Countries
China
Administrative Informations
NCT ID
NCT04994197
Organization ID
Genetron Uro V1-001
Responsible Party
Sponsor
Study Sponsor
Ruijin Hospital
Collaborators
Hangzhou Genetron Medical Laboratory Co., Ltd.
Study Sponsor
Danfeng Xu, Principal Investigator, Ruijin Hospital
Verification Date
July 2021