Genetic profiling of upper tract urothelial carcinoma: A necessity for precision medicine

The urothelium of the upper tract (renal pelvis and ureter) has morphological and functional similarities to the bladder. There are also morphological similarities between the urothelial carcinoma of the upper tract (UTUC) and the bladder (UCB). However, there are differences in the embryological origin, phenotype, disease course, and response to treatment between the upper tract and bladder urothelium and their corresponding malignancies. Comprehensive genomic studies can provide valuable information about the differences between UTUC and UCB, which have diagnostic and therapeutic implications.

In this study, we have collected and compared the available literature on the next-generation sequencing (NGS) of the UTUC and compared it to UCB with a focus on the effect of genomic changes on the disease course and management. The review revealed the value of NGS in providing important information for diagnosis and management, which can result in more successful precision medicine.

Although there are shared gene alterations between UTUC and UCB, the presence of minor genomic variations between the two site differences in the genomic alterations can explain differences in disease course. An upfront knowledge of the molecular alterations in UTUC can provide valuable information for patient care.