[High-throughput molecular analysis of urothelial carcinoma: potential clinical applications]

The application of next-generation high-throughput techniques for the identification of molecular alterations in tumour tissue has greatly improved our knowledge of the biology of urothelial carcinoma. Gene expression analysis performed as part of the Cancer Genome Atlas project (TCGA) enabled the identification of molecular subtypes with distinct biologic features. The knowledge gained through these analyses could lead to a significant change in the clinical management of patients with urothelial carcinoma through targeted applications. Initial studies indicate that the determination of molecular subtypes could inform the decision on whether or not to use neoadjuvant chemotherapy. Moreover, drugs with effects limited to patients with specific genetic alterations are currently under investigation in clinical trials. The identification of specific mutations in circulating tumour DNA (ctDNA) using liquid biopsies enables the characterisation of metastatic tumours without a tissue biopsy. Moreover, circulating tumour DNA could be used in the aftercare of patients with urothelial carcinoma.