Emerging precision diagnostics in genitourinary cancers

Genitourinary tumors comprise distinct entities with different epidemiological background, molecular alterations and clinical outcomes, underlining the need for precision diagnostics.

Recent advances in molecular technologies have facilitated the increasing use of molecular testing in routine diagnostics. These tests have important roles in diagnosis, risk stratification, and therapeutic tailoring, and are both tissue-based and liquid biopsy-based. Examples include 1) high-end (epi)genomic arrays, such as mRNA-based arrays for prostate cancer; 2) noninvasive circulating biomarkers (DNA mutations or DNA methylation) in bladder cancer, and serum/plasma microRNA (micrcoRNA-371a-3p) testing in testicular germ cell tumors; 3) as well as targeted assays focused on immunohistochemistry and fluorescence in situ hybridization (FISH) for renal and penile cancers. In this review we cover the application of these tests in routine practice at a molecular pathology lab.

These tests are at different stages of development and establishment in routine practice. As molecular testing increases, so does the relevance of pre-analytics, sample selection and morphological assessment, which are key for achieving reliable results. Integration of molecular tests is set to contribute to precision medicine in genitourinary cancers, contributing to better selection of patients for targeted therapies. Centralization of techniques, human resources and resources is critical to establish effective molecular testing frameworks for the community.