Cancer Genomics and Important Oncologic Mutations: A Contemporary Guide for Body Imagers
Veronica L. Cox, MD, Priya Bhosale, MD, Gauri R. Varadachary, MBBS, MD, Nicholas Wagner-Bartak, MD, Isabella C. Glitza, MD, PhD, Kathryn A. Gold, MD1, Johnique T. Atkins, PhD, Pamela T. Soliman, MD, David S. Hong, MD, Aliya Qayyum, MBBS, MD
The field of cancer genomics is rapidly evolving and has led to the development of new therapies. Knowledge of commonly involved cellular pathways and genetic mutations is now essential for radiologists reading oncology cases. Radiogenomics is an emerging area of research that seeks to correlate imaging features with cancer genotypes. Such knowledge may extend the utility of multiparametric imaging to yield information regarding cancer prognosis and likelihood of therapeutic response. To date, only a handful of radiogenomics studies have been performed to evaluate solid tumors of the body, and there is much to explore. Before doing so, however, it behooves us to have adequate background knowledge of clinical cancer genomics to design meaningful radiogenomics projects and explore imaging phenotypes. Herein, an up-to-date, detailed overview is provided of well-known and common mutations of solid body tumors (such as human epithelial growth factor receptor 2, breast cancer susceptibility protein), newer genomic alterations with potential for clinical relevance, and a discussion of known related imaging findings, including existing radiogenomics data and other radiologic patterns of disease.