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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 its invasiveness and high price limit its clinical application and promotion
.
However, non-invasive tests such as urine tumor markers and exfoliated cytology lack sensitivity and specificity and cannot reveal the tumor gene phenotype, which brings certain difficulties to the 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
Recently, Professor Chen Haige's team from the Department of Urology, Renji Hospital, Shanghai Jiaotong University School of Medicine, published an important research result titled: Urinary Molecular Pathology for Patients with Newly Diagnosed Urothelial Bladder Cancer in the Journal of Urology as a cover paper
.
This study revealed for the first time that in urine specimens of patients with bladder urothelial cancer, urine tumor DNA (utDNA) exhibited multi-dimensional consistency with tumor DNA (tDNA), and proposed based on TP53, KDM6A, FGFR3, PIK3CA and The precise detection kit developed by five genes including ARID1A is expected to be an effective means for early risk classification, dynamic tumor monitoring, detection of small residual lesions, and individualized precise treatment of bladder cancer patients
.
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
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.
Dr.
Original source:
Original source:Ruiyun Zhang, Jingyu Zang, Feng Xie, et al.
Urinary Molecular Pathology for Patients with Newly Diagnosed Urothelial Bladder Cancer in this message
