Molecular genetics and immunohistochemistry of renal tumours: translation into clinical practice

Renal cell carcinomas comprise a heterogeneous group of tumours with diverse clinicopathological and molecular characteristics as well as therapeutic options. Accurate diagnosis and classification are critical for patient management and prognosis prediction. They have traditionally been classified according to histopathological features. Recent advances in high throughput technologies, including next generation sequencing, have enabled us to search genome-wide for genomic, transcriptomic and proteomic changes in large number of renal cancer specimens. Studies have demonstrated that different histological subtypes harbour unique genomic and epigenetic alterations and gene expression and protein profile that can be integrated with clinicopathological features for diagnosis, classification, prognosis and individualized treatment and “n-of-1” trials. This review will discuss the immunoprofiles of major renal cell carcinoma subtypes, immunohistochemical markers that are commonly used in clinical laboratories, and recent genomic and epigenetic discoveries in renal cell carcinomas.