Cancer genome landscape: a radiologist’s guide to cancer genome medicine with imaging correlates

Abstract

AbstractThe introduction of high throughput sequence analysis in the past decade and the decrease in sequencing costs has made available an enormous amount of genomic data. These data have shaped the landscape of cancer genome, which encompasses mutations determining tumorigenesis, the signaling pathways involved in cancer growth, the tumor heterogeneity, and its role in development of metastases. Tumors develop acquiring a series of driver mutations over time. Of the many mutated genes present in cancer, only few specific mutations are responsible for invasiveness and metastatic potential, which, in many cases, have characteristic imaging appearance. Ten signaling pathways, each with targetable components, have been identified as responsible for cancer growth. Blockage of any of these pathways form the basis for molecular targeted therapies, which are associated with specific pattern of response and toxicities. Tumor heterogeneity, responsible for the different mutation pattern of metastases and primary tumor, has been classified in intratumoral, intermetastatic, intrametastatic, and interpatient heterogeneity, each with specific imaging correlates. The purpose of this article is to introduce the key components of the landscapes of cancer genome and their imaging counterparts, describing the types of mutations associated with tumorigenesis, the pathways of cancer growth, the genetic heterogeneity involved in metastatic disease, as well as the current challenges and opportunities for cancer genomics research.