Shanghai Jiaotong University Chen Haige's team published a cover study in the future, only a few milliliters of urine can be used to diagnose bladder cancer non-invasively

Recently, the team of Professor Chen Haige from the Department of Urology, Renji Hospital, Shanghai Jiaotong University School of Medicine, published important research results in the form of a cover paper in the famous urology journal "American Journal of Urology", revealing for the first time in the urine specimens of patients with bladder urothelial cancer , Urine tumor DNA (utDNA) exhibits multi-dimensional consistency with tumor DNA (tDNA).
At the same time, an accurate detection kit based on five genes, including TP53, KDM6A, FGFR3, PIK3CA and ARID1A, is proposed, which is expected to be used as bladder cancer.
Effective means for early patient risk grading, dynamic tumor monitoring, detection of small residual lesions and individualized precise treatment
.

Bladder cancer is the most common malignant tumor of the urinary system, and its incidence ranks fourth among men.
Among them, urothelial cancer is the most common pathological type of bladder cancer, and its biggest feature is its high recurrence rate and high progression rate
.

At present, the gold standard for the diagnosis and monitoring of bladder cancer is cystoscopy, but because of its invasiveness and high price, it restricts its clinical promotion
.

However, non-invasive tests such as urine tumor markers and exfoliated cytology lack sensitivity and specificity, and cannot reveal tumor gene phenotypes, which brings certain difficulties to clinical screening and accurate diagnosis of bladder cancer
.

In recent years, next-generation sequencing technology (NGS) based on cell free DNA (cfDNA) in body fluids is gradually being promoted in clinical practice.
Many studies have proved that urine tumor DNA (utDNA) and circulating tumor DNA (ctDNA) are detected in the bladder.
Epithelial cancer patients have potential for development, but there is still a lack of research on its diagnostic effect in clinical practice
.

Therefore, a complete verification of it, especially its consistency with systemic mutations in tumor cells and the factors affecting the quality of its analysis are scientific research issues that the research team strives to solve
.

To this end, the research team prospectively collected the tissues of 59 patients with pathologically confirmed bladder epithelial cancer and their corresponding urine and blood samples.
At the same time, they used the 180-gene test kit to perform molecular tests on these tissues, blood, and urine samples
.

The study found that the traditional five indicators (TMB, VAF, MSAF, CCF and the total number of mutations) that reflect somatic cell mutations, utDNA is highly consistent with tDNA compared to ctDNA
.

Taking tDNA test results as the gold standard, the specificity, sensitivity, positive predictive value, negative predictive value and diagnostic accuracy rates of utDNA test are 99.
3%, 86.
7%, 67.
2%, 99.
8% and 99.
1%, which are all higher than ctDNA.
It shows that it has high sensitivity and accuracy in the diagnosis of bladder epithelial cancer, and has the value and potential of clinical application
.

The researchers further explored the role of utDNA testing in clinical practice.
By permuting and combining all genes with mutations> 10%, they selected five genes, TP53, KDM6A, FGFR3, PIK3CA and ARID1A, and developed a test kit
.

After testing, the kit can diagnose and monitor 92% of malignant lesions.
At the same time, because of its non-invasive and convenient characteristics, it can be used as an early detection and screening tool for bladder cancer.
In the future, further experiments will confirm its diagnostic effect and enter the clinical results.
Transformation will bring the gospel to more patients
.

Dr.
Zhang Ruiyun from the Department of Urology, Renji Hospital, Shanghai Jiaotong University School of Medicine, and Dr.
Zang Jingyu from the State Key Laboratory of Oncogenes and Tumor Suppressor Genes of Shanghai Cancer Institute are the co-first authors of the paper.
Professor Chen Haige and Professor Zhuang Guanglei are the corresponding authors of the paper
.

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