Cancer genomics and pathology: all together now

Cancer develops from a single cell with stepwise accumulation of genomic alterations. Recent innovative sequencing technologies have made it possible to sequence the full cancer genome. Cancer genome sequencing has been productive and helpful in the discovery of novel cancer genes. It also has revealed previously unknown but intriguing features of the cancer genome such as chromothripsis and kataegis. However, careful comparison of these studies has suggested that analyses of most tumors still seem to be incomplete, and histopathological diagnosis/classification will be essential for refining these data. Based on the improvement of technology and the completion of the cancer gene catalog, genetic diagnosis, such as examination of all potentially druggable mutations, of individual cancers will be performed routinely together with histological diagnosis. Pathologists will play a central role in both interpreting these patho-molecular diagnoses for oncologists, and the process of decision-making necessary for individualized medicine.