Genomic heterogeneity of clear cell renal cell carcinoma

Defects in DNA are an important driver of the behaviour of cancer. One of the challenges in understanding and treating cancer is that tumours of a certain type can differ between each other but also not all cancer cells within a single tumour are identical. Some cells within a tumour can for example be more resistant to chemotherapy than others or be more inclined to metastasize. Pathologist Paranita Ferronika (Department of Genetics, UMCG) studied these differences in the clear cell type of kidney cancer, which is the most common and usually lethal type. She identified many genetic differences between and within these tumours, and also between the tumours and their metastases. She was able to reconstruct the genetic steps in the evolution of metastases from particular regions within the kidney cancer. She also found that patients with defects in a particular combination of genes (PBRM1 and VHL) have a better cancer related survival than patients with tumours lacking that combination. Gaining more insight into the genetic differences between and within this kidney tumours and their metastases can help improving cancer diagnostics and treatment in the future.