Next-generation sequencing technology in prostate cancer diagnosis, prognosis, and personalized treatment

Abstract Next-generation sequencing (NGS) of the genetic information of cancer cells has revolutionized the field of cancer biology, including prostate cancer (PCa). New recurrent alterations have been identified in PCa (e.g., TMPRSS2-ERG translocation, SPOP and CHD1 mutations, and chromoplexy), and many previous ones in well-established pathways have been validated (e.g., androgen receptor overexpression and mutations; PTEN, RB1, and TP53 loss/mutations). With its highly heterogeneous nature, PCa continues to pose a tremendous challenge in terms of diagnosis and prognosis. Combining the information gained through NGS studies with clinicopathological and radiological data will help diagnose the aggressiveness of the cancer with greater accuracy. Furthermore, understanding the heterogeneity of tumor through single-cell or single-molecule sequencing technology will also strengthen the prognosis and provide better, patient-specific drug identification. As this research becomes more prominent, it is important that urologic oncologists become familiar with the various NGS technologies and the results generated using them. We highlight the commonly used NGS tools and summarize recent discoveries relevant to PCa.